{"symbol":"HSD17B4","synonyms":["SDR8C1","PRLTS1","MPF-2","MFE-2"],"name":"hydroxysteroid (17-beta) dehydrogenase 4","description":"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]","ncbiEntrezGeneId":3295,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/3295","proteins":[{"symbol":"DHB4_HUMAN","href":"/api/1.0/protein/DHB4_HUMAN"}],"hgncRootFamilies":[{"name":"Short chain dehydrogenase/reductase superfamily (SDR)","href":"/api/1.0/gene_family/Short+chain+dehydrogenase%24slash%24reductase+superfamily+%28SDR%29"}]}