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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
SCO2 - Synthesis Of Cytochrome C Oxidase 2
Alias:
TP
MYP6
TYMP
ECGF1
SCO1L
MC4DN2
CEMCOX1
PD-ECGF
TdRPase
Gliostatin
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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)催化电子从细胞色素c转移到分子氧,有助于维持线粒体内膜上的质子梯度,这对于有氧ATP的产生是必要的。人类COX是一个需要几个组装因子的多亚基蛋白质复合体;这个基因编码COX组装因子之一。编码的蛋白质是一种金属伴侣,涉及细胞色素c氧化酶亚基II的生物生成。这个基因的突变与婴儿猝死性心肌病和近视6有关。[RefSeq提供,2014年10月]
Related ID:
NCBI:9997
ENSEMBL:ENSG00000284194
HGNC:10604
UNIPROT:O43819
OMIM:604272
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9997
4
2
2875 bp
29.81
554
9
2
22
SCO2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
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Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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