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CYP21A2

cytochrome P450 family 21 subfamily A member 2
2 disorders 1 untyped 1 causative 6p21.33 gene with protein product
HGNC:2600MonarchNCBI Gene 1589ENSG00000231852UniProt P08686OMIM 613815

Previous symbols: CYP21, CYP21B. Aliases: P450c21B, CA21H, CPS1, CAH1.

Normal function · from ai-gene-review (P08686, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Congenital Adrenal Hyperplasia causative germline
mechanism: CYP21A2 21-Hydroxylase Deficiency
subtype: Classic 21-OHD; Nonclassic 21-OHD; Salt-Wasting 21-OHD; Simple-Virilizing 21-OHD
scoped to subtype: Classic 21-OHD
Chronic Primary Adrenal Insufficiency untyped
Encodes steroid 21-hydroxylase, the dominant autoantigen in autoimmune CPAI and the deficient enzyme in classic congenital adrenal hyperplasia.

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.