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.

Mar 30, 2025 · 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.

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 …

Full gene sequencing, multiplex ligation-dependent probe amplification, and droplet digital polymerase chain reaction (when needed) are used to detect the common disease-causing CYP21A2 variants, CYP21A2 full gene deletions, and rare CYP21A2 variants.

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% …

Nov 23, 2023 · 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.

Oct 10, 2024 · Title: Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency. Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.