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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
COX15 - Cytochrome C Oxidase Assembly Homolog COX15
Alias:
MC4DN6
CEMCOX2
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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COX生物生成所必需的,并可能在heme O的羟基化中起作用,根据酵母突变体研究。这个蛋白质被预测含有5个位于线粒体内膜中的跨膜结构域。这个基因的可变剪接产生了两种在3'区域有差异的转录变异体。[RefSeq,2008年7月提供]
Related ID:
NCBI:1355
ENSEMBL:ENSG00000014919
HGNC:2263
UNIPROT:Q7KZN9
OMIM:603646
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1355
11
9
37835 bp
46.03
337
3
6
11
COX15 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
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References Literature
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