AKR1C4 Chromosome 10
Aldo-keto reductase family 1 member C4
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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 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]
Gene Info
Gene Group
Aldo-keto reductases
Locus Type
gene with protein product
Location
10p15.1
Ensembl
ENSG00000198610
Associated Conditions (3)
46
XY disorder of sex development due to testicular 17
20-desmolase deficiency
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS398122815 | Health Risk | risk factor | 46, XY disorder of sex development due to testicular 17, 20-desmolase deficiency |