AKR1C4 gene

aldo-keto reductase family 1 member C4

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 by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. 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, Jul 2008]

From UniProt:

Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20-alpha-hydroxysteroid dehydrogenase activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route.

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 5,196,835 to 5,218,947 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
  • 3-alpha-HSD
  • C11
  • CDR
  • CHDR
  • DD-4
  • DD4