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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
TUBB4A - Tubulin Beta 4A Class IVa
Alias:
DYT4
TUBB4
beta-5
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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β微管蛋白家族的一员。β微管蛋白是两种核心蛋白质家族(α和β微管蛋白)之一,它们可以异二聚化并组装成微管。这个基因的突变会导致6型少髓性白质营养不良和4型常染色体显性扭转性肌张力障碍。交替剪接导致多个转录变异体,它们编码不同的异构体。这个基因的一个假基因位于染色体X上。[由RefSeq,2014年1月提供]
Related ID:
NCBI:10382
ENSEMBL:ENSG00000104833
HGNC:20774
UNIPROT:P04350
OMIM:602662
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10382
6
4
8530 bp
49.59
256
7
7
12
TUBB4A 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
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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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