这个基因编码琥珀酸泛醌氧化还原酶的一个主要催化亚单位,一个线粒体呼吸链的复合物。该复合物由四个核编码亚单位组成,位于线粒体内膜。这种基因突变与一种线粒体呼吸链缺乏症(leigh综合征)有关。在染色体3q29上发现了一个假基因。另外,已经发现该基因编码不同亚型的剪接转录变体。[由RefSeq提供,2014年6月]
This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

基因名:SDHA
别名:FP,PGL5,SDH1,SDH2,SDHF,CMD1GG
基因ID:6389
Chromosome:
(GRCh37)
5 Start: 218338 End: 256815 Strand: 
信号通路: 能量代谢  遗传相关 
SDHA 基因突变与药物

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