AKR1C2 Chromosome 10
Aldo-keto reductase family 1 member C2
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What This Gene Does
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]
Gene Info
Gene Group
Aldo-keto reductases
Locus Type
gene with protein product
Location
10p15.1
Ensembl
ENSG00000151632
Associated Conditions (3)
46
XY disorder of sex development due to testicular 17
20-desmolase deficiency
Key Variants
RS142672563
Conflicting classifications of pathogenicity
Health Risk
RS13222
Pathogenic
46, XY disorder of sex development due to testicular 17, 20-desmolase deficiency
Health Risk
RS387906750
Pathogenic
46, XY disorder of sex development due to testicular 17, 20-desmolase deficiency
Health Risk
RS387906751
Pathogenic
46, XY disorder of sex development due to testicular 17, 20-desmolase deficiency
Health Risk
RS797044460
Pathogenic
46, XY disorder of sex development due to testicular 17, 20-desmolase deficiency
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142672563 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS13222 | Health Risk | Pathogenic | 46, XY disorder of sex development due to testicular 17, 20-desmolase deficiency |
| RS387906750 | Health Risk | Pathogenic | 46, XY disorder of sex development due to testicular 17, 20-desmolase deficiency |
| RS387906751 | Health Risk | Pathogenic | 46, XY disorder of sex development due to testicular 17, 20-desmolase deficiency |
| RS797044460 | Health Risk | Pathogenic | 46, XY disorder of sex development due to testicular 17, 20-desmolase deficiency |