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中文人类
SPART - Spartin
Alias:
SPG20
TAHCCP1
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这个基因编码一个含有MIT（微管相互作用和转运分子）结构域的蛋白质，参与调节内质网转运和线粒体功能。蛋白质定位在线粒体上，并与微管部分共定位。用表皮生长因子（EGF）刺激后，蛋白质转移到质膜上，并在EGF受体的降解和细胞内转运中发挥作用。已经发现了多个可变剪接的变异体，它们编码相同的蛋白质。与这个基因相关的突变导致常染色体隐性痉挛性截瘫20（Troyer综合症）。[RefSeq,2008年11月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SPART 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
