Official Full Name

hydroxysteroid (17-beta) dehydrogenase 4

Background

The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8.

Synonyms

HSD17B4; hydroxysteroid (17-beta) dehydrogenase 4; peroxisomal multifunctional enzyme type 2; 3 alpha; 7 alpha; 12 alpha trihydroxy 5 beta cholest 24 enoyl CoA hydratase; 17 beta HSD IV; 17 beta hydroxysteroid dehydrogenase 4; 17beta estradiol dehydrogena; 17beta estradiol dehydrogenase type IV; beta hydroxyacyl dehydrogenase; beta keto reductase; D 3 hydroxyacyl CoA dehydratase; D bifunctional protein; peroxisomal; DBP; MFE 2; peroxisomal multifunctional protein 2; SDR8C1; short chain dehydrogenase/reductase family 8C; member 1; 17-beta-HSD 4; 17-beta-HSD IV; beta-keto-reductase; multifunctional protein 2; beta-hydroxyacyl dehydrogenase; D-3-hydroxyacyl-CoA dehydratase; D-bifunctional protein, peroxisomal; 17-beta-hydroxysteroid dehydrogenase 4; 17beta-estradiol dehydrogenase type IV; short chain dehydrogenase/reductase family 8C, member 1; 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase; MFE-2; MPF-2; DBP, MFE-2, MPF-2, PRLTS1, SDR8C1; 17-beta-hydroxysteroid dehydrogenase type IV; zgc:55545; zgc:77300