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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
TBCA - Tubulin Folding Cofactor A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的产物是四种蛋白质(辅助因子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。辅助因子A和D被认为在捕获并稳定处于准天然确认状态的β-微管蛋白中间体中发挥作用。辅助因子E与辅助因子D/β-微管蛋白复合物结合;然后与辅助因子C的相互作用导致被确定为天然状态的多肽的β-微管蛋白的释放。这个基因编码伴侣结合蛋白辅助因子A。已经发现这个基因有不同的剪接转录变异体,编码不同的异构体。[RefSeq,2014年7月提供]
Related ID:
NCBI:6902
ENSEMBL:ENSG00000171530
HGNC:11579
UNIPROT:O75347
OMIM:610058
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
6902
3
4
85174 bp
12.86
4
--
2
8
TBCA Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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