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HSD17B4

Official Full Name
hydroxysteroid 17-beta dehydrogenase 4
Organism
Homo sapiens
GeneID
3295
Background
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]
Synonyms
DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1;

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