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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 17-beta-HSD 4; 17-beta-HSD IV; 17-beta-hydroxysteroid dehydrogenase 4; 17beta-estradiol dehydrogenase type IV; 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase; beta-hydroxyacyl dehydrogenase; beta-keto-reductase; D-3-hydroxyacyl-CoA dehydratase; D-bifunctional protein; D-bifunctional protein, peroxisomal; DBP; hydroxysteroid (17-beta) dehydrogenase 4; hydroxysteroid dehydrogenase 4; MFE-2; MFP-2; Multifunctional protein 2; Peroxisomal multifunctional enzyme type 2; peroxisomal multifunctional protein 2; Short chain dehydrogenase/reductase family 8C member 1; short chain dehydrogenase/reductase family 8C, member 1
基因别名: DBP; EDH17B4; HSD17B4; MFE-2; MPF-2; PRLTS1; SDR8C1
UniProt ID: (Human) P51659
Entrez Gene ID: (Human) 3295