该基因编码mrp/nbp35 atp结合蛋白家族的一个成员。编码的蛋白质是组装呼吸链nadh脱氢酶(复合物i)所必需的,该复合物是位于线粒体内膜的低聚酶复合物。该基因突变导致线粒体复合物I缺乏选择性剪接导致多个转录变体[由RefSeq提供,2014年5月]
This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

基因名:NUBPL
别名:IND1,huInd1,MC1DN21,C14orf127
基因ID:80224
Chromosome:
(GRCh37)
14 Start: 32030591 End: 32330430 Strand: 
信号通路:  
NUBPL 基因突变与药物

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