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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
TIMM8B - Translocase Of Inner Mitochondrial Membrane 8 Homolog B
Alias:
DDP2
TIM8B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个与酵母Tim线粒体导入蛋白具有相似性的保守蛋白家族成员。这个基因由一个核基因编码,并被运输到线粒体的膜间空间。当形成复合物时,这些蛋白引导跨膜蛋白穿过线粒体膜间空间,然后将其添加到线粒体内膜中。这个基因与琥珀酸脱氢酶D亚基(SDHD)相邻,其中已发现突变影响患有遗传性副神经节瘤的家族成员。[RefSeq,2009年8月提供]
Related ID:
NCBI:26521
ENSEMBL:ENSG00000150779
HGNC:11818
UNIPROT:Q9Y5J9
OMIM:606659
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
26521
1
2
1957 bp
9.34
5
--
--
11
TIMM8B 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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No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
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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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