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中文人类
TIMM8A - Translocase Of Inner Mitochondrial Membrane 8A
Alias:
DDP
MTS
DDP1
DFN1
TIM8
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这个转运蛋白参与将疏水性膜蛋白从细胞质导入线粒体内膜。该基因在Mohr-Tranebjaerg综合征/聋性肌张力障碍综合征（MTS/DDS）中发生突变，据推测MTS/DDS是一种由线粒体蛋白导入系统缺陷引起的线粒体疾病。该基因的缺陷还导致Jensen综合征，这是一种X连锁疾病，具有视神经听觉神经萎缩和肌肉无力症状。这种蛋白质与TIMM13一起形成70kDa的异六聚体。可变剪接导致编码不同异构体的多种转录变异体。[RefSeq,2009年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TIMM8A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
