Gene Symbol | HSD17B4 |
Entrez Gene ID | 3295 |
Full Name | hydroxysteroid 17-beta dehydrogenase 4 |
Synonyms | DBP,MFE-2,MPF-2,PRLTS1,SDR8C1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | D-bifunctional protein deficiency, 261515 (3); Perrault syndrome 1, 233400 (3) |