HSD17B6


Description

The HSD17B6 (hydroxysteroid 17-beta dehydrogenase 6) is a protein-coding gene located on chromosome 12.

Hydroxysteroid 17-beta dehydrogenase 6 is an enzyme encoded by the HSD17B6 gene in humans. The protein encoded by this gene possesses both oxidoreductase and epimerase activities and plays a role in androgen catabolism. The oxidoreductase activity converts 3 alpha-adiol to dihydrotestosterone, while the epimerase activity converts androsterone to epi-androsterone. Both reactions utilize NAD+ as the preferred cofactor. This gene belongs to the retinol dehydrogenase family. Multiple transcript variants utilizing alternative polyadenylation signals exist.

HSD17B6 is a NAD-dependent oxidoreductase with broad substrate specificity, demonstrating both oxidative and reductive activity in vitro. It exhibits 17-beta-hydroxysteroid dehydrogenase activity towards various steroids in vitro, converting 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone. Additionally, it possesses 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone and retinol dehydrogenase activity towards all-trans-retinol, all in vitro. HSD17B6 can convert androsterone to epi-androsterone through a two-step process involving oxidation to 5-alpha-androstane-3,17-dione followed by reduction. It can act on both C-19 and C-21 3-alpha-hydroxysteroids.

HSD17B6 is also known as HSE, RODH, SDR9C6.

Associated Diseases



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