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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
小鼠
Ndufa7 - NADH:ubiquinone oxidoreductase subunit A7
Alias:
14.5kDa
CI-B14.5a
2400007M02Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
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这个基因编码NADH-泛醌氧化还原酶(复合物I)的亚基,这是一种大型的多聚蛋白。它是线粒体电子传递链中的第一个酶复合物,催化电子从NADH转移到电子受体泛醌。电子传递产生的质子梯度驱动ADP转化为ATP。复合物I已经被生物化学分离成四个部分。这个蛋白质的牛正链已被报道是I-lambda部分的一部分,该部分形成了外在的球状结构域。在人类中,复合物I的缺陷与肌病、脑肌病和神经退行性疾病有关。这个基因的假基因位于染色体7和16上。选择性剪接产生了多个转录变异体。[RefSeq提供,2013年5月]
Related ID:
NCBI:66416
ENSEMBL:ENSMUSG00000041881
UNIPROT:Q9Z1P6
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66416
1
4
13745 bp
12.58
2
5
Ndufa7 Genetics information (+)
GRCm39
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* This data comes from NCBI.
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