CYP21A2

Gene Information
 
Gene Symbol
CYP21A2
 
Aliases
CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21B
 
Entrez Gene ID
 
Gene Name
Cytochrome P450, family 21, subfamily A, polypeptide 2
 
Chromosomal Location
6p21.3
 
HGNC ID
 
Summary
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 protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq)
 
GeneCards ID
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0008202 Biological process Steroid metabolic process EXP 15583024
GO:0008395 Molecular function Steroid hydroxylase activity TAS 1406709
Protein Information
 
Protein Name
Cytochrome P450, family 21, subfamily A, polypeptide 2
 
Function
Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00067 p450 Cytochrome P450
 
KEGG
 
OMIM
 
Interactions
STRING MINT I2D

Associated Diseases

Diseases References
Acanthosis nigricans 16052863
Adrenal disease 17230657, 8626850, 7882511, 14616882
Adrenal tumor 8249954, 19100538, 11421542, 8075752, 9661649, 17848847, 12605349
Adrenogenital syndrome 9685841, 16834664, 1674383, 1294431, 18679641, 2099900, 2170988, 9734185, 8413342, 1435819, 2314399, 17557757, 7829699
Alopecia androgenetic 17145028
   
References
 
Primary:

Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess.

Witchel Selma F, Kahsar-Miller Melissa, Aston Christopher E, White Carlie, Azziz Ricardo
Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, PA 15213, USA. selma.witchel@chp.edu
Fertil Steril. 2005 Feb;83(2):371-5.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
ACTH and 17OHP 
 
 
 
Related 
252 healthy, premenopausal women with regular menses 
The prevalence of CYP21 mutations in patients was 8.6% compared with 6.3% in controls (P = 0.38). Ten of 19 carriers had M17OHP levels below the cutoff limit. 
IRS1 
 
G972R variant 
Inclusion criteria were evidence of ovulatory dysfunction in conjunction with hirsutism and/or hyperandrogenemia, as well as exclusion of other disorders, such as nonclassic 21-hydroxylase-deficient adrenal hyperplasia (NCAH), Cushing's syndrome, hyperpro 
Related 
PCOS (n = 114) and healthy controls (n = 95) 
IRS1 variant and CYP21 mutations seem to play a limited role in the development of PCOS  
 
 
 
 
Direct 
50 women with PCOS and 60 control subjects 
V281L polymorphism is not associated with PCOS in Italian women 
 
hyperandrogenism  
 
 
Direct 
30 adolescent girls with hyperandrogenism, 14 healthy control women, and 15 female obligate CYP21 mutation carriers 
There were no significant differences in the frequencies of the modifier variants among the three groups. Although the small sample size precludes strong conclusions, CYP21 nonsense mutation carriers tend to be asymptomatic while missense mutation carriers, i.e. V281L, appear to manifest a PCOS phenotype. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26082286
Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome. 
Clinical study 
25538881, PMC4266872
Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations. 
Clinical study 
24778650, PMC3981121
Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea. 
Clinical study 
23386413
CYP21A2 mutations in women with polycystic ovary syndrome (PCOS). 
Clinical study 

 

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