The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase, which is part of the cytochrome P450 family of enzymes. Learn about this gene and related health conditions.

Steroid 21-hydroxylase in humans is encoded by the CYP21A2 gene that may be accompanied by one or several copies of the nonfunctional pseudogene CYP21A1P, [20] [21] this pseudogene shares 98% of the exonic informational identity with the actual functional gene.

2024年12月24日 · CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2) is a Protein Coding gene. Diseases associated with CYP21A2 include Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency and Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency.

Mutations in the CYP21A2 gene cause 21-hydroxylase deficiency. The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. This enzyme is found in the adrenal glands, where it plays a role in producing hormones called cortisol and aldosterone.

2025年1月27日 · CYP21A2 gene is located within the class III region of the human major histocompatibility complex on chromosome 6 (6p21.3). Loss or impairment of CYP21A2 results in reduced production of the enzyme cytochrome P450c21 (21-OH).

2020年8月20日 · In this work, we gathered a total of 1,340 GVs in the CYP21A2 gene, from which 899 variants were unique and 230 have an effect on human health, and compiled all this information in an integrated database. We also connected CYP21A2 sequence information to phenotypic effects for all available mutations, including double mutants in cis.

Gene ID: 1589, updated on 8-Feb-2025. 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 …

The CYP21A2 gene coding for the 21-hydroxylase enzyme is formed by 10 exons and 9 introns located on the short arm of chromosome 6 [6, 7]. CYP21A2 is arranged in tandem with a nonfunctional pseudogene (CYP21A1P) that shares 98% …

Mutations in the cytochrome p450 (CYP)21A2 gene, which encodes the enzyme steroid 21-hydroxylase, cause the majority of cases in congenital adrenal hyperplasia, an autosomal recessive disorder. To date, more than 100 CYP21A2 mutations have been reported.

2023年11月23日 · Clinical resource with information about CYP21A2, Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension., Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array., and available tests.