Aldo Keto Reductase Family 1, Member C2 (AKR1C2) Antibody – Rabbit Polyclonal

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. [provided by RefSeq]

AKR1C2: 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). Has a high bile-binding ability. Defects in AKR1C2 are a cause of 46,XY sex reversal type 8 (SRXY8). A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. Belongs to the aldo/keto reductase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 1.1.1.357; Oxidoreductase; EC 1.3.1.20; Xenobiotic Metabolism - metabolism by cytochrome P450

Chromosomal Location of Human Ortholog: 10p15-p14

Cellular Component: cytoplasm

Molecular Function: oxidoreductase activity, acting on NADH or NADPH, quinone or similar compound as acceptor; ketosteroid monooxygenase activity; bile acid binding; trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity; carboxylic acid binding; aldehyde reductase activity; phenanthrene 9,10-monooxygenase activity

Biological Process: steroid metabolic process; G-protein coupled receptor protein signaling pathway; positive regulation of protein kinase B signaling cascade; epithelial cell differentiation; digestion; positive regulation of cell proliferation; progesterone metabolic process; prostaglandin metabolic process

Disease: 46,xy Sex Reversal 8