AKR1C2

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Full Name

Aldo-Keto Reductase Family 1 Member C2

Function

Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids (PubMed:19218247). Most probably acts as a reductase in vivo since the oxidase activity measured in vitro is inhibited by physiological concentrations of NADPH (PubMed:14672942). Displays a broad positional specificity acting on positions 3, 17 and 20 of steroids and regulates the metabolism of hormones like estrogens and androgens (PubMed:10998348). Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol) (PubMed:15929998, PubMed:17034817, PubMed:17442338, PubMed:8573067). Also specifically able to produce 17beta-hydroxy-5alpha-androstan-3-one/5alphaDHT (PubMed:10998348). May also reduce conjugated steroids such as 5alpha-dihydrotestosterone sulfate (PubMed:19218247). Displays affinity for bile acids (PubMed:8486699).

Biological Process

Cellular response to jasmonic acid stimulus Source: UniProtKB
Cellular response to prostaglandin D stimulus Source: UniProtKB
Daunorubicin metabolic process Source: UniProtKB
Digestion Source: UniProtKB
Doxorubicin metabolic process Source: UniProtKB
Epithelial cell differentiation Source: UniProtKB
G protein-coupled receptor signaling pathway Source: UniProtKB
Positive regulation of cell population proliferation Source: UniProtKB
Positive regulation of protein kinase B signaling Source: UniProtKB
Progesterone metabolic process Source: UniProtKB
Prostaglandin metabolic process Source: UniProtKB
Steroid metabolic process Source: UniProtKB

Cellular Location

Cytosol

Involvement in disease

46,XY sex reversal 8 (SRXY8): A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.