Entrez gene ID | | 3295 |
Official gene symbol | | HSD17B4 |
Full name | | hydroxysteroid (17-beta) dehydrogenase 4 |
Aliases | | ,DBP,MFE-2,SDR8C1, |
Gene 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. [provided by RefSeq] |
Location | | Chromosome: 5 Locus: 5q21 |
Gene position | | 118788148 - 118878027 Map Viewer |
Gene orientation | | plus |
Gene size | | 89880 bp |
Gene sequence |
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OMIM ID | | 601860 |
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