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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
TNNC1 - Troponin C1, Slow Skeletal And Cardiac Type
Alias:
TNC
TN-C
TNNC
CMD1Z
CMH13
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
肌钙蛋白是一种重要的调节蛋白质,位于有纹肌收缩的中心,与肌纤蛋白一起位于肌动蛋白丝上。肌钙蛋白由三个亚单位组成:TnI,作为肌动蛋白-肌球蛋白ATP酶的抑制剂;TnT,包含肌纤蛋白的结合位点;和TnC,由这个基因编码的蛋白质。钙离子与TnC的结合消除了TnI的抑制活性,从而允许肌动蛋白与肌球蛋白相互作用,ATP的水解,并产生张力。这个基因的突变与扩张型心肌病1Z型有关。[RefSeq,2008年10月提供]
Related ID:
NCBI:7134
ENSEMBL:ENSG00000114854
HGNC:11943
UNIPROT:P63316
OMIM:191040
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7134
1
6
2942 bp
18.40
287
4
5
13
TNNC1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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