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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
COX14 - Cytochrome C Oxidase Assembly Factor COX14
Alias:
PCAG1
MC4DN10
C12orf62
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个小的单跨膜蛋白,定位在线粒体上。这个蛋白可能参与协调细胞色素c氧化酶(COX;也称为复合物IV)亚基组装的早期步骤,特别是全酶COX I亚基的合成和组装。这个基因的突变与线粒体复合物IV缺陷有关。可变剪接导致多个转录变异体。[RefSeq, Nov 2012提供]
Related ID:
NCBI:84987
ENSEMBL:ENSG00000178449
HGNC:28216
UNIPROT:Q96I36
OMIM:614478
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84987
4
2
8218 bp
6.60
30
2
2
7
COX14 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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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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