基因名称：HSD17B4 （hydroxysteroid 17-beta dehydrogenase 4）
别名： DBP,MFE-2,MPF-2,PRLTS1,SDR8C1
基因ID：3295
Chromosome(GRCh37) ：5 Start: 118788138 End: 118878030 Strand:
信号通路：
靶向药：
化疗药：
简介：由该基因编码的蛋白质是参与脂肪酸过氧化物酶体β氧化途径的双功能酶。它还可以催化直链和2-甲基支链脂肪酸形成3-酮酰基-CoA中间体。影响过氧化物酶体脂肪酸β氧化活性的基因缺陷是D-双功能蛋白缺乏症（DPD）的一个原因。这个基因的一个明显的假基因存在于8号染色体上。已发现该基因的多个选择性剪接转录变体编码不同的亚型。[由RefSeq提供，2014年5月]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]
HSD17B4突变与药物：
