AKR1C2 gene

aldo-keto reductase family 1 member C2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • 46,XY sex reversal 8

From UniProt:

46,XY sex reversal 8 (SRXY8): A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. [MIM:614279]

Cytogenetic Location: 10p15.1, which is the short (p) arm of chromosome 10 at position 15.1

Molecular Location: base pairs 4,987,775 to 5,018,033 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10p15.1, which is the short (p) arm of chromosome 10 at position 15.1
  • AKR1C-pseudo
  • BABP
  • DD
  • DD-2
  • DD2
  • DDH2
  • HBAB
  • MCDR2
  • SRXY8
  • TDD