检测编号：NS0370109

基因 HSD17B10 与疾病

HSD17B1编码17-β羟化类固醇脱氢酶10，该酶位于线粒体内，在类固激素和支链脂肪酸以及异亮氨酸的代谢中发挥重要作用，该酶对于维持雌激素和雄激素的适当以及大脑的正常功能是必要的。

已发现6种突变，引发一个氨基酸发生改变，使得该酶的活性降低或失活，导致17-β羟化类固醇脱氢酶10缺乏症

基因名称	基因全名	基因位置	外显子个数	CDS长度
HSD17B10	hydroxysteroid (17-beta) dehydrogenase 10	Xp11.2	6	约963 bp
基因摘要	This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014].