Gene Symbol | AKR1C2 |
Entrez Gene ID | 1646 |
Full Name | aldo-keto reductase family 1 member C2 |
Synonyms | AKR1C-pseudo,BABP,DD,DD-2,DD/BABP,DD2,DDH2,HAKRD,HBAB,MCDR2,SRXY8,TDD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Dec 2011]. |
Disorder MIM: | |
Disorder Html: | Obesity, hyperphagia, and developmental delay (3); 46XY sex reversal 8, 614279 (3) |