Characterization of the major single nucleotide polymorphic variants of aldo-keto reductase 1C3 (type 5 17β-hydroxysteroid dehydrogenase).

ABSTRACT: Aldo-keto reductase (AKR) 1C3, also known as type 5 17β-hydroxysteroid dehydrogenase and prostaglandin F synthase, is a member of the AKR superfamily that reduces aldehydes and ketones to primary and secondary alcohols. It plays an essential role in the peripheral formation of androgens and is implicated in several steroid hormone dependent diseases including prostate cancer, breast cancer, and polycystic ovary syndrome (PCOS). AKR1C3 has 14 nonsynonymous single nucleotide polymorphisms (nsSNPs) with different global frequencies and ethnic distributions. Association studies support their role in disease, but a detailed functional genomic analysis of these variants is lacking. One study examined five AKR1C3 nsSNPs for their ability to reduce exemestane, an aromatase inhibitor used to treat

SUBMITTER: Detlefsen AJ 

PROVIDER: S-EPMC9675978 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature