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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
NDUFS2 - NADH:ubiquinone Oxidoreductase Core Subunit S2
Alias:
CI-49
MC1DN6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是线粒体膜呼吸链NADH脱氢酶(复合物I)的核心亚基。哺乳动物线粒体复合物I至少由43个不同的亚基组成,其中7个由线粒体基因组编码,其余的由核基因编码。复合物I的铁硫蛋白部分由7个亚基组成,包括这个基因的产物。复合物I催化NADH氧化,同时伴随泛醌还原和质子从线粒体中排出。这个基因的突变与线粒体复合物I缺陷有关。已经发现这个基因有不同的剪接转录变异体,它们编码不同的异构体。[RefSeq,2009年10月提供]
Related ID:
NCBI:4720
ENSEMBL:ENSG00000158864
HGNC:7708
UNIPROT:O75306
OMIM:602985
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4720
9
14
16979 bp
52.55
223
4
4
17
NDUFS2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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