In greater than 90% of CAH cases, the affected enzyme is 21-steroid hydroxylase, encoded by the CYP21A2 gene located on chromosome 6 within the highly recombinant human histocompatibility complex locus. 21-hydroxylase deficient CAH is inherited in an autosomal recessive pattern and has a spectrum of clinical phenotypes depending upon residual. Mutations in CYP21A2 lead to deficient levels of 21-hydroxylase which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and injury
Clinical Significance: Detects sequence variations in the CYP21A2 gene, as well as the common 30kb deletion in CYP21A2 in patients with Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency. Patients exhibit ambiguous genitalia in infants; premature adrenarche; hirsutism and/or oligomenorrhea in women; family history of congenital adrenal hyperplasia . The typical number of repeats of the CYP21/C4 region is 2, with 1 repeat carrying CYP21A2 and the other carrying the highly homologous. 21-hydroxylase deficiency More than 100 mutations in the CYP21A2 gene have been found to cause 21-hydroxylase deficiency. Some of these mutations result from an exchange of genetic material between the CYP21A2 gene and a similar but nonfunctional piece of DNA called a pseudogene, which is located very close to the CYP21A2 gene on chromosome 6
A cytochrome P450 monooxygenase that plays a major role in adrenal steroidogenesis. Catalyzes the hydroxylation at C-21 of progesterone and 17alpha-hydroxyprogesterone to respectively form 11-deoxycorticosterone and 11-deoxycortisol, intermediate metabolites in the biosynthetic pathway of mineralocorticoids and glucocorticoids (PubMed:25855791, PubMed:10602386, PubMed:16984992, PubMed:22014889. Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disorder and is the most common cause of ambiguous genitalia in the newborn. The genes encoding 21-hydroxylase, CYP21A2, and tenascin-X (TNX), TNXB, are located within the HLA complex, in a region of high Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder which results from a deficiency in enzymes involved in cortisol biosynthesis. Approximately 95% of cases of CAH are caused by defects in the CYP21A2 gene, which leads to a deficiency of the steroid 21-hydroxylating enzyme. Approximately 1 in 12 individuals is a carrier of CAH. Symptoms of CAH vary based on the form of CAH.
The chimeric CYP21A1P/CYP21A2 gene is the consequence of the 26 or 32 Kb deletion including the complete XA, RP2, and C4B genes and the partial sequences of CYP21A1P and CYP21A2 genes .. The possible cause of the chimera formation is the presence of specific sequences, such as Chi-like and tandem-repetitive minisatellite consensus, which play a role in promoting genetic recombination  The CYP21A2 gene produces the 21-hydroxylase enzyme. Another name for this disorder is 21-hydroxylase-deficient CAH (21-OHD CAH). When the 21-hydroxylase enzyme is missing or present at low levels, the adrenal glands are unable to produce two critical hormones, cortisol and aldosterone. The body responds to this deficiency by producing an. The CYP21A2 gene is a 10-exon, 3.1 kb gene that is mapped on the short arm of chromosome number 6 within the major histocompatibility complex region (locus 6p21.31). The CYP21A2 gene is specifically located within proximity of three other genes along a 730 kb region called the RCCX module CYP21A2. Due to the complexity of the CYP21A2 locus, site specific testing for known/familial variants is not offered for this gene. Lab Testing Section: Anatomic Pathology -Sendouts Referred to: Mayo Medical Laboratories (MML: CYPZ) Phone Numbers: MIN Lab: 612 -813 6280 STP Lab: 651-220-6550 Test Availability: Daily, 24 hour CYP21A2 is a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position
The CYP21A2 gene homepage. The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project. The Reading-frame checker generates a prediction of the effect of whole-exon changes CYP21A2. resulting from homologous recombination. The 30 kb deletion alleles are PCR amplified using a . CYP21A1P. specific forward primer and . CYP21A2. gene reverse primer (A1P-F and A2-R). CYP21A2. ASPE Assay: ASPE detection of 21 . CYP21A2. variants found in the Minnesota population. The . CYP21A2 CYP21A2. Species Human Location. Chr.6: 32040175-32040680 on GRCh38; Amp. Len. 506 Transcripts. 2 RefSeqs (NM) Availability. Made to Order. Catalog # A15629, A15630 Non-tailed | Desalted | Pair : See in cart, See in cart Add Pair To Cart Add to Array View Details. CYP21A2 Gene Analysis Full Gene Sequence. 3 mL whole blood in lavender top tube. Frozen or heparinized samples. Deliver to laboratory immediately after collection. Specimen preferred to arrive within 96 hours of collection. An interpretive report will be provided. All detected alterations will be evaluated according to American College of. 21-hydroxylase deficiency is caused by genetic changes in the CYP21A2 gene and is inherited in an autosomal recessive pattern. Newborn screening is available in all 50 states of the US to test for this disorder at birth. The diagnosis is made based on the clinical symptoms, biochemical and genetic testing. [4
CYP21a2, which resides within the RCCX region codes for the enzyme 21-hydroxylase. This enzyme is located to the endoplasmic reticulum, and converts 17-hydroxyprogesterone into cortisol and aldosterone, respectively. Genetic variations of CYP21a2 are a known cause of mild, moderate and severe forms of 21-hydroxylase deficiency Panel Description. This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of 21-Hydroxylase Deficiency. Sequence variants and/or copy number variants (deletions/duplications) within the CYP21A2 gene will be detected with >99% sensitivity
Deletions and mutations in the CYP21A2 gene account for all cases of the 21-hydroxylase deficiency form of CAH. Mutations in the CYP11B1, CYP17A1, HSD3B2, CYP11A1, STAR, and CYPOR genes are responsible, respectively, for 11-hydroxylase, 17-hydroxylase, 3-beta-hydroxysteroid dehydrogenase deficiencies, lipoid adrenal hyperplasia, and PORD, the other rarer forms of CAH . Androgens build up in their body. This hormone imbalance can damage the body and change the way it develops. Inheritance and Family Concerns CAH is a genetic condition 23andMe has a high rate of miscalls for SNPs in the CYP21A2 gene. Examples include rs7769409(C;T) rs7755898(C;T) i5005436(C;T) This is presumably due to the presence of a nearby CYP21 pseudogene as documented in omim. The most common forms of CAH arise from mutations in the CYP21A2 gene on chromosome 6. This gene encodes steroid 21-hydroxylase, so the corresponding disorder is also commonly. CYP21A2. 186. Annotation score: Annotation score:1 out of 5. The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score cannot be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein
It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes. Reference Range (s) See Laboratory Report. Alternative Name (s) 21-Hydroxylase Deficiency Mutation,CYP21A2 Common Mutations,CYP21 Common Mutations. LOINC® Codes, Performing Laboratory CYP21A2 and the CYP21A1P, a nonfunctional pseudogene, are genomically organized in tandem to the 3′-end of C4B and C4A, respectively . The majority of disease-causing mutations in CYP21A2 alleles are CYP21A1P-derived sequences transferred to the active gene by deletions or macro- or microconversions CYP21A2 structural analysis. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, with an overall incidence of 1:15,000 live births worldwide ( 1 ). Up to 95% of cases arise from mutations in the cytochrome p450 (CYP) 21A2 ( CYP21A2) gene, which encodes the enzyme steroid 21-hydroxylase. Classical CAH is characterized by a. Clinically, classical CAH CYP21A2 gene are large deletions, large occurs as the salt wasting (SW) form with a conversions or one of eight point mutations complete lack of the 21-OH enzyme activity [p.P30L, IVS2-13 C>G in intron 2 splice site or as the simple virilizing (SV) form with (IVS-2), 8bp deletion in exon 3, p.I172L, partial impairment. The MLPA CYP21A2 kit is commercially available from MRC Holland, Amsterdam, The Netherlands. The probemix contains 5 specific probes for exons 1, 3, 4, 6, and 8 of CYP21A2 gene. Briefly, 20-500 ng DNA was denatured and hybridised overnight at 60 °C with the SALSA probemix. Samples were then treated with Ligase-65 enzyme for 15 min at 54 °C.
Mutations in CYP21A2 lead to deficient levels of 21-hydroxylase which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and. In a study by Parajes et al, 5 the CYP21A2 gene was sequenced in 144 random individuals in Spain, and 7% of those studied were found to have a duplication of the CYP21A2 gene, with most of these. Abstract. CYP21A2, the gene that codes for P450c21 (Steroid 21-hydroxylase), has a duplicated pseudogene called CYP21A1P.The gene and the pseudogene share 98 % and 96 % sequence homology in exons and in noncoding sequences, respectively, and are located 30 kb apart within the HLA class III human histocompatibility complex locus on chromosome 6p21.3
CYP21A2 is located in the coding region of human leukocyte antigen with frequent genome recombination effect, which may lead to partial or complete deletions and conversions of CYP21A2 owing to meiotic unequal crossover and conversion Ordering Guidance. This test is a molecular analysis of the CYP21A2 gene and does not include biochemical analysis of steroids. For biochemical analysis for congenital adrenal hyperplasia (CAH) which includes cortisol, androstenedione and 17-Hydroxyprogesterone, see CAH21 / Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency
CYP21A2 (HGNC Symbol) Synonyms: CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21B: Description: Cytochrome P450 family 21 subfamily A member 2 (HGNC Symbol) Chromosome: 6: Cytoband: p21.33: Chromosome location (bp) 32038265 - 32041670: Number of transcripts Best practice guidelines. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, caused in more than 90% of cases by variants of CYP21A2 impairing the function of 21-hydroxylase. Over the last two decades, we have extensively studied the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and have performed 8,290 DNA analyses of the CYP21A2 gene on members of 4,857 families at risk for CAH—the largest cohort of CAH patients reported to date. Of the families studied, 1,507 had at least one member affected with one of three known forms. General information: The SALSA MLPA Probemix P050 CAH is a research use only (RUO) assay for the detection of large CYP21A2 gene deletions, which are associated with Congenital Adrenal Hyperplasia (CAH). This probemix should be used in conjunction with sequence analysis. Some frequent point mutations in the CYP21A2 gene can also be detected with this probemix, but reciprocal exchanges between. Aleksi Tornio, Janne T. Backman, in Advances in Pharmacology, 2018. 3.1 CYP1A2. CYP1A2 belongs to the CYP1 family and its gene is located on chromosome 15 along with CYP1A1 and CYP1B1.Their expression is regulated by the aryl hydrocarbon receptor (AhR) pathway. CYP1A2 is abundantly expressed in the liver (Zhang et al., 2016), and it is involved in the metabolism of about 10% of clinically used.
CYP21A2 and TNXB has been associated with Ehlers Danlos syndrome in a signiﬁcant subset of CAH patients.22 Identiﬁ-cation of these clinically signiﬁcant chimeras has been incor-porated into our mutation analysis strategy. An additional challenge in the molecular evaluation o Premature pubarche (PP) is the appearance of sexual hair in children before puberty. The PP phenotype may attribute to nonclassic congenital adrenal hyperplasia (NC-CAH). In this study, we investigated the role of CYP21A2 gene variants in patients with PP in the Iranian population. Forty patients (13 males and 27 females), clinically diagnosed with PP, were analyzed for molecular testing of <i.
CYP21A2 - Explore an overview of CYP21A2, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data The CYP21A2 gene variations determined in the patients, supported the clinical signs of the disease (8, 12, 15, 16). In previous reports, about 65% - 75% of CAH patients that had different mutations of the CYP21A2 gene were in compound heterozygous state The CYP21A2 gene and CYP21A1P pseudogene are located in the HLA major histocompatibility complex on chromosome 6p21.3, each adjacent in tandem with three other genes (serine/threonine kinase RP, complement C4, and tenascin TNX), forming a genetic unit termed an RCCX (RP-C4-CYP21-TNX) module Unique variants in the CYP21A2 gene. The variants shown are described using the NM_000500.7 transcript reference sequence. Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column PrimePCR™ SYBR® Green Assay: CYP21A2, Human. Real-time PCR primer assay designed for SYBR ® Green gene expression analysis. Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis. Gene-specific synthetic DNA template designed to give a positive real.
A significant proportion of pathogenic CYP21A2 variants are secondary to gene conversions. We have been able to detect some gene conversions and some copy number variants in patients referred to clinical testing; however, we have not performed an analytic validation of these variant types and our detection capabilities are likely limited . cyp21a1 (); si:ch1073-443n13. There are no reviews for CYP21A2 Antibody (NBP2-13893). By submitting a review you will receive an Amazon e-Gift Card or Novus Product Discount. Review with no image -- $10/€7/£6/$10 CAD/¥70 Yuan/¥1110 Ye
Illustrated in panel H is the typical pattern of staining for CYP21A2 in the rhesus monkey adrenal gland between 109-172 days of gestation near the central region of the gland, incorporating the adrenal medulla. Panel H shows the lack of staining for CYP21A2 in the central FZ (f) cells, which are adjacent to unstained adrenomedullary cells (m) LP28553-3 CYP21A2 gene The CYP21A2 gene (cytochrome P450, family 21, subfamily A, polypeptide 2) [HGNC Gene ID:2600] is located on chromosome 6p21.3. This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of. An earlier study of CYP21A2 polymorphism among random acne patients found that alterations of the CYP21A2 gene were more common in patients with acne than in the controls, but there is a poor correlation between these changes and increased steroids and acne. 10 To date, there are no other associational studies that explore the relationship.
CYP21A2 Approved name cytochrome P450 family 21 subfamily A member 2. Locus type gene with protein product HGNC ID HGNC:2600 Symbol status Approved Previous symbols CYP21. CYP21B. Previous names cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2. Clinical Significance: Detects sequence variations in the CYP21A2 gene in patients with Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency. Patients exhibit ambiguous genitalia in infants; premature adrenarche; hirsutism and/or oligomenorrhea in women; family history of congenital adrenal hyperplasia Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids (PubMed:22014889). This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This. The CYP21A2 gene is located in the long arm of chromosome 6, within the major human histocompatibility complex (HLA), a region that displays a complex organization of genes with a great variability in gene size and copy numbers (2, 3, 23, 24). Approximately 30 kb from the CYP21A2 gene there is a non-functional pseudogene—CYP21A1P
Defects of the CYP21A2 gene are divided into three groups according to residual enzyme activity, depend-ing on the nature of the muta[9, 10]roup consists of mutations abolishing enzyme activity and is thus associated with the SW form. ˚e second group, found in patients with the SV form, consists mainly o CYP21A2. A cytochrome P450 monooxygenase that plays a major role in adrenal steroidogenesis. Catalyzes the hydroxylation at C-21 of progesterone and 17alpha-hydroxyprogesterone to respectively form 11- deoxycorticosterone and 11-deoxycortisol, intermediate metabolites in the biosynthetic pathway of mineralocorticoids and glucocorticoids (PubMed. PrEST Antigen CYP21A2 Prestige Antigens™ Powered by Atlas Antibodies, buffered aqueous solution; Synonyms: CA21H,CPS1,CAH1,CYP21,CYP21B; find Sigma-Aldrich-APREST83903 MSDS, related peer-reviewed papers, technical documents, similar products & more at Sigma-Aldric CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2) is a protein-coding gene. Diseases associated with CYP21A2 include late-onset congenital adrenal hyperplasia, and adrenal rest tumor. GO annotations related to this gene include electron carrier activity and heme binding
elements that impair CYP21A2 gene expression. This can lead to false-negative test results. Rare polymorphisms in primer binding sites can lead to selective allelic drop-out, which can lead to false-negative or false-positive diagnosis. Patients without genetic evidence for disease-causing CYP21A2 geneti CYP21A2*7 . 30 kb deletion including 3' of CYP21A1P and 5' of CYP21A2 . 30 kb deletion including 3' of CYP21A1P and 5' of CYP21A2. A single, non-functional gene remains . CYP21A2 deletion . SW . White et al 1988. PSEUDOGENE-DERIVED MUTATIONS: CYP21A2*8 . 89C>T . 89C>T. P30L . NC . 60%/30% . Tusie-Luna et al 1991. CYP21A2*9 . 655A/C>G . New. CYP21A2 or CYP21A2 Mutation Associated Neuropsychiatric Spectrum (CAPS) might be able to predict the development of chronic illness. CYP21A2 is found within the RCCX gene module, which some theorize is responsible for the myriad of differing signs and symptoms of myalgic encephalomyelitis (ME).. The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase, which is part of. The 21-OH (CYP21A2/CYP21B) active gene, (OMIM #201910), is located on chromosome 6p21·3 within the histocompatibility complex and shares >95% homology with an inactive pseudogene (CYP21A1P/CYP21A) which is a result of an ancestral gene duplication. Genetic diagnosis of 21-OH deficiency is more complicated than any other monogenic disorder due.
Gene therapy is an approach for treating genetic diseases such as CAH. The Adrenas investigational gene therapy is designed to use an AAV5 vector to deliver a functioning copy of the CYP21A2 gene, which provides instructions for making an enzyme called 21-hydroxylase. Through the addition of a functioning CYP21A2 gene, the Adrenas investigational gene therapy approach has the potential to. CYP21A2-002: ENST00000418967.2: 2182: 495aa: ENSP00000408860.2 . Gene/transcipt that contains an open reading frame (ORF). Protein coding. CCDS4735: B6VE01 C6K7H0 Q16874 Q7KYP0 Q9UP07: NM_000500 NP_000491: The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants) CYP2R1 CYP2S1 CYP2W1 CYP3A4 CYP3A5 CYP3A7 CYP3A43 CYP4A11 CYP4A22 CYP4B1 CYP4F2 CYP5A1 CYP8A1 CYP19A1 CYP21A2 CYP26A1 POR. This website is maintained by Magnus Ingelman-Sundberg Questions and comments are always welcom
Formalin-fixed, paraffin-embedded human pancreatic cancer tissue stained for CYP21A2 using ab232809 at 20μg/ml in immunohistochemical analysis. Western blot - Anti-CYP21A2 antibody (ab232809) Anti-CYP21A2 antibody (ab232809) at 2 µg/ml + Recombinant human CYP21A2. Developed using the ECL technique. Predicted band size: 56 kDa Several genome-wide association studies have identified single-nucleotide polymorphisms (SNPs), such as rs4409766, rs1004467, and rs3824755 in CYP17A1 and rs2021783 in CYP21A2, as new hypertension susceptibility genetic variants in the Chinese population. This study aimed to look into the relationship between preeclampsia (PE) and these SNPs in Chinese Han women Due to the very high homology between the CYP21A2 gene and the pseudogene CYP21A2P, a sample from at least one parent (both parents if possible) is requested to aid clarification of variant analysis. There is no charge for the parental testing, and no parental report will be issued CYP21A2 Lentiviral Activation Particles (h) contain the following SAM Activation elements: a deactivated Cas9 (dCas9) nuclease (D10A and N863A) fused to the transactivation domain VP64, an MS2-p65-HSF1 fusion protein and a target-specific 20 nt. guide RNA. They also contain the blasticidin, hygromycin and puromycin resistance gene CYP21A2 Gene Mutations in Horm Res Paediatr 7 Greek-Cypriot Patients Related Papers. Molecular Defects of the <i>CYP21A2</i> Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia. By Nicos Skordis, Véronique Tardy, Vassos Neocleous, Philippos Patsalis, and Leonidas Phylactou. Endocrine profile and phenotype-genotype correlation in.
CYP21A2 MISSION shRNA shRNA Plasmid DNA cytochrome P450, family 21, subfamily A, polypeptide 2: Human: 5 Products Total. TRC Number Vector Price Set Price (5+)? Select; We do not support the configuration options you have chosen: TRCN0000064328 Product Details. Region:3UTR: TRC Version: 1: Clone ID:NM_000500.4. except CYP21A2 and HBA1/HBA2) Detection Rate (%) (Derived from gnomAD and ClinVar except CYP21A2, GBA, and HBA1/HBA2) Individual Carrier Risk Before Testing (Derived from gnomAD and ClinVar except CYP21A2 and HBA1/HBA2) Individual Residual Risk After Negative Result Risk of Affected Fetus Whe Consequently, the pathogenic variants of CYP21A2 include chimeric CYP21A1P/CYP21A2 genes (alternatively called 30 kb deletions in the literature), common pseudogene variants transferred via gene conversions and other rare pathogenic variants. For more details, please see the CYP21A2 single-gene test description Human (CYP21A2 EG:1589), Mouse (Cyp21a1 EG:13079), Rat (Cyp21a1 EG:24298), Western Clawed Frog (cyp21a2.1 EG:100489813), Zebra Fish (cyp21a2 EG:793249) SwissProt ID: P08686, P03940, Q64562: Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes A f ter m ore t h an 15 years t h e Human Cy t oc h ro m e. P450 (CY P) Alle l e Nome n clat u re Data b ase h a s tra n sitio n e d to the P har m a c ogene.
mutated CYP21A2 alleles carrying novel point mutations (p.Thr168Asn, p.Ser169X and p.Pro386Arg), ii) mutated CYP21A2 alleles carrying the novel chimeric gene designated as CH-7, which was detected in 21.4% of the mutant alleles, iii) an unusual genotype with a combination of the CYP21A2 duplication, 2 point mutations and the CYP21A2 large-scal There are no reviews for CYP21A2 Antibody (NBP2-38698). By submitting a review you will receive an Amazon e-Gift Card or Novus Product Discount. Review with no image -- $10/€7/£6/$10 CAD/¥70 Yuan/¥1110 Yen; Review with an image -- $25/€18/£15/$25 CAD/¥150 Yuan/¥2500 Ye CYP21A2 genotyping remains an important element in the diagnosis and management of congenital adrenal hyperplasia, and establishing accurate genotype-phenotype correlations has facillitated adequate genetic counseling and prenatal management for at-risk families. Despite extensive efforts to establish a clear genotype-phenotype correlation, some discordance remains
View mouse Cyp21a2-ps Chr17:34719813-34722252 with: sequences, polymorphisms, reference 21‑Hydroxylase deficiency (21‑OHD) is the most common cause of congenital adrenal hyperplasia. Inherited in an autosomal recessive manner, 21‑OHD is caused by mutations in the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene. The present study was designed to investigate the genetic characteristics of one Chinese pedigree and to identify the genotype‑phenotype association. CYP21A2, cytochrome P450 family 21 subfamily A member 2 Synonyms CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21 CYP21A2 (cytochrome P450 family 21 subfamily A member 2), Authors: Dessen P. Published in: Atlas Genet Cytogenet Oncol Haematol
The CYP21A2 gene is located on chromosome 6p21.3 and is composed of 10 exons that generate two alternatively spliced mRNAs. The encoded proteins from these two mRNAs are identified as steroid 21-hydroxylase isoform a (495 amino acids) and steroid 21-hydroxylase isoform b (465 amino acids) A Novel CYP21A2 Gene Mutation in Classic Congenital Adrenal Hyperplasia A 3-month-old boy presented with failure to thrive since birth, and poor feeding, lethargy and vomiting for one month. He was born to consanguineous parents and weighed 3.0 kg at birth. There was no family history of previous similarly affected member or early deaths. O CYP21A2 coding probes (in exons 3, 4, 6, 8), absence of 5'CYP21A2 gene, triplication of 5' CYP21A1P and 3' CYP21A1P, and triplication of g.656A/C>G (I2G) in intron 2 of the gene. The absence of the related CYP21A2 probes indicated gene deletion and the triplication of pseudogene and confirmed the predicted haplotypes of the patient
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by several distinct enzymatic defects that result in changes in steroidogenesis. These disruptions cause irregular genital and sexual characteristics, and interfere with electrolyte balance. Newborn screening detects elevations in 17-hydroxyprogesterone (17-OHP) Congenital adrenal hyperplasia (CAH) is one of the most frequent inborn errors of metabolism, inherited as an autosomal recessive trait. Above 95% of CAH cases are caused by mutations in cytochrome P450 21A2 (CYP21A2). It is a pity that how these mutations affect the structural characteristics and substrate PCCP Editor's Choice, 202 The CYP21A2 and CYP21A1P have 98% homology in exons and 96% in introns [21 New MI, Wilson RC. Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc Natl Acad Sci USA 1999; 96(22): 12790-7