rs387906751

This is a variant in the AKR1C2 gene that changes a asparagine to an threonine.

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ClinVar annotation

Pathogenic

1 submitter1 publication

46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

About AKR1C2

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]

View all AKR1C2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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