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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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人类
TUBB3 - Tubulin Beta 3 Class III
Alias:
CDCBM
FEOM3
TUBB4
CDCBM1
CFEOM3
beta-4
CFEOM3A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于β微管蛋白家族的III类成员。β微管蛋白是两种核心蛋白家族(α和β微管蛋白)之一,它们异二聚体化并组装成微管。这个蛋白主要在神经元中表达,可能参与神经发生、轴突导向和维护。这个基因的突变是导致先天性眼外肌纤维化3型的原因。交替剪接导致多个转录变异体。这个基因的一个假基因位于染色体6上。[由RefSeq,2010年10月提供]
Related ID:
NCBI:10381
ENSEMBL:ENSG00000258947
HGNC:20772
UNIPROT:Q13509
OMIM:602661
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10381
2
4
14173 bp
50.43
261
4
8
18
TUBB3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Status
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Link
No data available
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