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HSD17B4 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.
Gene Name: | Hydroxysteroid (17-beta) Dehydrogenase 4 |
Synonyms: | HSD17B4, 17-beta-HSD IV, 17-beta-HSD 4, Beta-keto-reductase, D-bifunctional protein, EDH17B4, MPF-2, PRLTS1, SDR8C1, Beta-hydroxyacyl dehydrogenase, MFE-2, Multifunctional protein 2 |
Target Sequences: | NM_000414 NP_000405.1 P51659 |
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