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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
COQ8A - Coenzyme Q8A
Alias:
COQ8
ADCK3
ARCA2
CABC1
SCAR9
COQ10D4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个类似于酵母ABC1的线粒体蛋白,该蛋白在呼吸链中的电子传递膜蛋白复合体中发挥作用。它不与ABC转运蛋白家族相关。这个基因的表达受到肿瘤抑制因子p53的诱导,并响应DNA损伤,抑制其表达可以部分抑制p53诱导的凋亡。已经发现了替代剪接的转录变异体;然而,它们的全长性质尚未确定。[RefSeq,2008年7月提供]
Related ID:
NCBI:56997
ENSEMBL:ENSG00000163050
HGNC:16812
UNIPROT:Q8NI60
OMIM:606980
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
56997
10
15
47251 bp
71.95
657
1
4
25
COQ8A 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
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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