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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
COQ9 - Coenzyme Q9
Alias:
COQ10D5
C16orf49
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因座代表线粒体泛醌生物合成基因。编码的蛋白质可能是辅酶Q10生物合成的必需成分,因为该基因座上的突变与常染色体隐性遗传的新生儿起病的原发性辅酶Q10缺乏症有关[由RefSeq,2010年9月提供]。
Related ID:
NCBI:57017
ENSEMBL:ENSG00000088682
HGNC:25302
UNIPROT:O75208
OMIM:612837
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57017
1
9
13792 bp
35.51
247
1
4
11
COQ9 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
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Abundance
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Interactions
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Acting
Regulation
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Residues
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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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