HSD17B4, EDH17B4, Peroxisomal multifunctional enzyme type 2, MFE-2, 17-beta-hydroxysteroid dehydrogenase 4, 17-beta-HSD 4, D-bifunctional protein, DBP, Multifunctional protein 2, MPF-2
hydroxysteroid 17-beta dehydrogenase 4(HSD17B4) Homo sapiens 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014],catalytic activity:(24R,25R)-3-alpha,7-alpha,12-alpha,24-tetrahydroxy-5-beta-cholestanoyl-CoA = (24E)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA + H(2)O.,catalytic activity:(S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.,disease:Defects in HSD17B4 are a cause of D-bifunctional protein deficiency (DBPD) [MIM:261515]. DBPD is a disorder of peroxisomal fatty acid beta-oxidation.,function:Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids.,pathway:Lipid metabolism, fatty acid beta-oxidation.,similarity:Belongs to the short-chain dehydrogenases/reductases (SDR) family.,similarity:Contains 1 SCP2 domain.,tissue specificity:Present in many tissues with highest concentrations in liver, heart, prostate and testis.,
