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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
TBCE - Tubulin Folding Cofactor E
Alias:
HRD
KCS
KCS1
pac2
PEAMO
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
辅因子E是四种蛋白质(辅因子A、D、E和C)之一,这些蛋白质涉及从折叠中间体正确折叠β-微管蛋白的途径。辅因子A和D被认为在捕获并稳定呈准天然构象的β-微管蛋白中间体中发挥作用。辅因子E与辅因子D/β-微管蛋白复合物结合;然后与辅因子C的相互作用导致被确定为天然状态的β-微管蛋白多肽的释放。已发现此基因的两个转录变异体编码相同的蛋白质。[RefSeq,2008年7月提供]
Related ID:
NCBI:6905
ENSEMBL:ENSG00000284770
HGNC:11582
UNIPROT:Q15813
OMIM:604934
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6905
4
17
85017 bp
59.35
380
3
6
16
TBCE 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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Acting
Regulation
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Reference
Score
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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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