Peroxisomal multifunctional enzyme type 2 is a protein that in humans is encoded by the HSD17B4 gene. 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.
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Protein Aliases: (3R)-hydroxyacyl-CoA dehydrogenase; 12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase; 17-beta-HSD 4; 17-beta-HSD IV; 17-beta-hydroxysteroid dehydrogenase 4; 17beta-estradiol dehydrogenase type IV; 3-alpha; 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase; 7-alpha; beta-hydroxyacyl dehydrogenase; beta-keto-reductase; D-3-hydroxyacyl-CoA dehydratase; D-bifunctional protein; D-bifunctional protein, peroxisomal; DBP; Enoyl-CoA hydratase 2; hydroxysteroid (17-beta) dehydrogenase 4; hydroxysteroid dehydrogenase 4; member 1; MFE-2; MPF-2; Multifunctional protein 2; peroxisomal; Peroxisomal multifunctional enzyme type 2; peroxisomal multifunctional protein 2; SDR8C1; short chain dehydrogenase/reductase family 8C; Short chain dehydrogenase/reductase family 8C member 1; short chain dehydrogenase/reductase family 8C, member 1
Gene Aliases: DBP; EDH17B4; HSD17B4; MFE-2; MPF-2; PRLTS1; SDR8C1
UniProt ID: (Human) P51659
Entrez Gene ID: (Human) 3295