| ncRNA Symbol: | HSD17B4 |
| Full Name: | hydroxysteroid 17-beta dehydrogenase 4 |
| Category: | mRNA |
| Synonyms: | DBP|MFE-2|MPF-2|PRLTS1|SDR8C1 |
| Chromosome: | chr5 |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 119452443 | End Site(bp): | 119637199 | |
| 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] |
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