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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
人类
NDUFA1 - NADH:ubiquinone Oxidoreductase Subunit A1
Alias:
MWFE
ZNF183
CI-MWFE
MC1DN12
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
人类NDUFA1基因编码呼吸链复合物I的一个必需成分,将电子从NADH转移到泛醌。已经注意到N端疏水结构域具有折叠成横跨内质网膜的α-螺旋的潜力,而C端亲水结构域与复合物I的球形亚基相互作用。高度保守的两域结构表明这一特征对蛋白质功能至关重要,并可能作为NADH:泛醌氧化还原酶复合物在内质网膜上的锚定点。然而,NDUFA1肽是复合物I的“疏水蛋白”(HP)级分的大约31个成分之一,涉及质子转运。因此,NDUFA1肽也可能参与这一功能。[由RefSeq,2008年7月提供]
Related ID:
NCBI:4694
ENSEMBL:ENSG00000125356
HGNC:7683
UNIPROT:O15239
OMIM:300078
Basic Information
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MW (kDa)
Mutations
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Reference
4694
1
3
4831 bp
8.07
40
2
1
8
NDUFA1 Genetics information (+)
GRCh38
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* This data comes from NCBI.
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