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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
CTNNA1 - Catenin Alpha 1
Alias:
MDBS2
MDPT2
CAP102
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个连接蛋白的成员,该成员通过将位于质膜上的钙粘蛋白连接到细胞内的肌动蛋白丝而发挥在细胞粘附过程中的重要作用。编码的力学感知蛋白包含三个vinculin同源结构域,并响应细胞骨架张力经历构象变化,导致钙粘蛋白-肌动蛋白丝连接的重配置。这个基因中的某些突变导致蝴蝶状色素营养不良。[RefSeq提供,2016年5月]
Related ID:
NCBI:1495
ENSEMBL:ENSG00000044115
HGNC:2509
UNIPROT:P35221
OMIM:116805
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1495
37
18
181610 bp
100.07
2436
5
7
38
CTNNA1 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)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Type
Name
MGI
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No data available
Related Drugs
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CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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