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中文人类
TBC1D24 - TBC1 Domain Family Member 24
Alias:
EIM
FIME
DEE16
DOORS
TLDC6
DFNA65
DFNB86
EIEE16
EPRPDC
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这个基因编码一个具有保守结构域的蛋白质，称为TBC结构域，这是与GTP酶相互作用的蛋白质的特征。TBC结构域蛋白可以作为特定类别的GTP酶的GTP酶激活蛋白，这些GTP酶是参与膜转运调控的Rab（脑中的Ras相关蛋白）小GTP酶。这个基因的突变与家族性婴儿肌阵挛性癫痫有关。可变剪接导致多个转录变异体。[RefSeq，2011年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TBC1D24 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
