Gene: AKR1C2

Alternate names for this Gene: AKR1C-pseudo|BABP|DD|DD-2|DD/BABP|DD2|DDH2|HAKRD|HBAB|MCDR2|SRXY8|TDD

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10p15.1

Description of this Gene: aldo-keto reductase family 1 member C2

Type of Gene: protein-coding

rs12764498 in AKR1C2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs387906750 in AKR1C2 gene and MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE PMID 21802064 2011 Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.