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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
COX11 - Cytochrome C Oxidase Copper Chaperone COX11
Alias:
COX11P
MC4DN23
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
细胞色素c氧化酶(COX)是线粒体呼吸链的终端组件,催化电子从还原细胞色素c转移到氧气。这个组件是一个异源复合物,由3个由线粒体基因编码的催化亚基和多个由核基因编码的结构亚基组成。线粒体编码的亚基在电子传递中起作用,而核编码的亚基可能作用于复合物的调节和组装。这个核基因编码一个不是结构亚基的蛋白质,但可能是一种参与COX形成的血红素A生物合成酶。然而,在球形红菌中的研究表明,这个基因不是血红素A生物合成的必需基因,但却是COX的Cu(B)和镁中心的稳定形成的必需基因。这个人类蛋白质预测含有位于线粒体内膜的跨膜结构域。已经发现这个基因的多个转录变异体,编码不同的异构体。在染色体6上发现了一个相关的假基因。[RefSeq,2009年6月提供]
Related ID:
NCBI:1353
ENSEMBL:ENSG00000166260
HGNC:2261
UNIPROT:Q9Y6N1
OMIM:603648
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1353
11
4
16884 bp
31.43
11
1
--
9
COX11 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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References Literature
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