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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
NDUFB2 - NADH:ubiquinone Oxidoreductase Subunit B2
Alias:
AGGG
CI-AGGG
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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多亚基NADH:泛醌氧化还原酶(复合物I)的亚基。哺乳动物的复合物I由45个不同的亚基组成。这个蛋白质具有NADH脱氢酶活性和氧化还原酶活性。它在将电子从NADH转移到呼吸链中起着重要作用。酶的直接电子受体被认为是泛醌。疏水性分析表明,尽管这个亚基和另外4个亚基位于复合物I的疏水蛋白(HP)部分,但它们具有总体上的亲水性模式。[由RefSeq,2008年7月提供]
Related ID:
NCBI:4708
ENSEMBL:ENSG00000090266
HGNC:7697
UNIPROT:O95178
OMIM:603838
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4708
1
4
9936 bp
12.06
7
--
2
9
NDUFB2 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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