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.

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.

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.

It is classified as an inherited metabolic disorder. CAH is an autosomal recessive condition since it results from inheriting two copies of the faulty CYP21A2 gene responsible for 21-hydroxylase enzyme deficiency.

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 …

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.

HGNC Approved Gene Symbol: CYP21A2. Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38) : 6:32,038,415-32,041,644 (from NCBI) The CYP21A2 gene encodes the 21-hydroxylase enzyme (EC 1.14.99.10), which is essential for adrenal steroidogenesis (summary by Araujo et al., 2007).

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder characterized by 3 overlapping phenotypes: salt-wasting (SW), simple virilizing (SV), and non-classic (NC).

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.