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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
TIMM50 - Translocase Of Inner Mitochondrial Membrane 50
Alias:
MGCA9
TIM50
TIM50L
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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TIM23内线粒体膜转运复合物的亚基。编码的蛋白质作为受体亚基,识别目标为线粒体内膜和基质的蛋白质货物的线粒体靶向信号或前序。这个蛋白质也可能在维持膜通透性屏障中发挥作用,而在人类细胞中这个基因的敲除导致细胞色素c的释放和凋亡。[由RefSeq,2016年7月提供]
Related ID:
NCBI:92609
ENSEMBL:ENSG00000105197
HGNC:23656
UNIPROT:Q3ZCQ8
OMIM:607381
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
92609
4
11
12942 bp
39.65
347
1
5
10
TIMM50 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
Alphabetical
Interactions
Reset
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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