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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
Ndufa2 - NADH:ubiquinone oxidoreductase subunit A2
Alias:
B8
C1-B8
CI-B8
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
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References Literature
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。这个基因的一个人类正链已经过表征,其结构和氧化还原电位据报道与硫氧还蛋白相似。它可能参与通过辅助氧化还原过程来调节复合物I的活性和组装。在人类中,这个基因的突变与Leigh综合症有关,这是一种早期发病的进行性神经退行性疾病。这个基因的一个假基因位于染色体5上。[RefSeq提供,2013年5月]
Related ID:
NCBI:17991
ENSEMBL:ENSMUSG00000014294
UNIPROT:Q9CQ75
Basic Information
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MW (kDa)
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17991
1
3
2256 bp
10.92
--
6
Ndufa2 Genetics information (-)
GRCm39
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* This data comes from NCBI.
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