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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
COX17 - Cytochrome C Oxidase Copper Chaperone COX17
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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,但可能涉及将铜招募到线粒体以结合到COX寡酶中。这个蛋白质与小鼠和大鼠Cox17蛋白质有92%的氨基酸序列同一性。这个基因不再被认为是COX缺乏的候选基因。已经在线粒体13号染色体上发现了一个假基因COX17P。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10063
ENSEMBL:ENSG00000138495
HGNC:2264
UNIPROT:Q14061
OMIM:604813
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
10063
3
3
13432 bp
6.92
1
--
1
13
COX17 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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