Gene: CYP21A2

Alternate names for this Gene: CA21H|CAH1|CPS1|CYP21|CYP21B|P450c21B

Gene 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: cytochrome P450 family 21 subfamily A member 2

Type of Gene: protein-coding

rs140491239 in CYP21A2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs1296268275 in CYP21A2 gene and Congenital adrenal hyperplasia due to 21 hydroxylase deficiency PMID 8989258 1997 Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.

PMID 3260007 1988 Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1.

PMID 20080860 2010 Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.

PMID 15110320 2004 Detection and assignment of CYP21 mutations using peptide mass signature genotyping.

PMID 1864962 1991 Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.

PMID 3871526 1985 Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

PMID 9497336 1998 Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability.

PMID 18445671 2008 Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.

PMID 27721825 2016 Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects.

PMID 1496017 1992 Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

PMID 10408786 1999 A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.

PMID 14676460 2004 Three novel mutations in Japanese patients with 21-hydroxylase deficiency.

PMID 18319307 2008 p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.

PMID 11600539 2001 Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.

PMID 2072928 1991 A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele.

PMID 12788866 2003 Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.

PMID 11598371 2001 Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.

PMID 10198222 1999 Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21).

PMID 10364682 1999 Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.

PMID 10051010 1999 Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis.

PMID 12788880 2003 Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency.

PMID 23359698 2013 Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

PMID 25227725 2014 The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients.

PMID 8081391 1994 Mutations in steroid 21-hydroxylase (CYP21).

PMID 25121463 2014 131I-noriodocholesterol uptake by testicular adrenal rest tumors in a patient with classical 21-hydroxylase deficiency.

PMID 18445671 2008 Our objective was to study the functional and structural consequences of the novel CYP21A2 missense mutation c.364A > C (K121Q) detected in a female patient with nonclassical 21-hydroxylase deficiency.

PMID 8989258 1997 These results indicate that P105L and P453S can be expected to result in a very subtle disease manifestation when not found in combination, motivating their inclusion when genotyping to ascertain undiagnosed patients with the mildest forms of 21-hydroxylase deficiency.

PMID 2845408 1988 Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products.

PMID 1644925 1992 Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PMID 20661889 2010 Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease.

PMID 20926536 2011 Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PMID 21609351 2011 Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.

PMID 23359706 2013 Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.

PMID 2249999 1990 A single amino acid substitution (Val281----Leu) present in patients with mild "nonclassical" 21-hydroxylase deficiency resulted in an enzyme with 20-50% of normal activity.

PMID 14513879 2003 Steroid 21-hydroxylase (P450c21) naturally occurring mutants I172N, V281L and I236n/V237E/M239K exert a dominant negative effect on enzymatic activity when co-expressed with the wild-type protein.

PMID 24667412 2014 Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene.

PMID 3257825 1988 Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.

PMID 21098686 2011 Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PMID 22270556 2012 Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman.

PMID 24671123 2014 Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia.

PMID 19750867 2009 Classic virilizing congenital adrenal hyperplasia presenting late: case series from Pakistan.

PMID 3267225 1988 Nonsense mutation causing steroid 21-hydroxylase deficiency.

PMID 14715874 2004 Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.

PMID 23769969 2013 A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency.

PMID 2303461 1990 A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

PMID 24077358 2013 A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.

PMID 21134444 2011 Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia.

PMID 10496074 1999 Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.

PMID 15623806 2005 Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia.

PMID 2249999 1990 Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus.

PMID 23142378 2013 Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.

PMID 9215318 1997 Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan.

PMID 16427797 2006 CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.

rs431204 in CYP21A2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs6471 in CYP21A2 gene and Movement Disorders PMID 9521938 1998 Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

PMID 24904866 2013 Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.

PMID 25041270 2015 The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.

PMID 10857554 2000 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PMID 23359698 2013 Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

PMID 15964450 2005 Congenital adrenal hyperplasia.

PMID 12930931 2003 Congenital adrenal hyperplasia.

PMID 23692712 2013 Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.

PMID 24778650 2014 Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.

rs6467 in CYP21A2 gene and Multiple congenital anomalies PMID 12930931 2003 Congenital adrenal hyperplasia.

PMID 10857554 2000 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PMID 15964450 2005 Congenital adrenal hyperplasia.

PMID 24904866 2013 Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.

PMID 25041270 2015 The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.

PMID 24778650 2014 Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.

PMID 9521938 1998 Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

PMID 23692712 2013 Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.

PMID 23359698 2013 Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.