HSD17B4, Official Symbol HSD17B4provided by HGNC Official Full Name hydroxysteroid 17-beta dehydrogenase 4provided by HGNC Primary source HGNC:HGNC:5213 See related Ensembl:ENSG00000133835 MIM:601860; AllianceGenome:HGNC:5213 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1 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] Expression Ubiquitous expression in liver (RPKM 94.4), thyroid (RPKM 88.0) and 25 other tissues See more Orthologs mouse all