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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
TNNI3 - Troponin I3, Cardiac Type
Alias:
CMH7
RCM1
cTnI
CMD2A
TNNC1
CMD1FF
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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I (TnI),与肌钙蛋白T (TnT) 和肌钙蛋白C (TnC) 一起,是形成细肌丝的肌钙蛋白复合物的三个亚基之一。TnI 是抑制亚基,阻断肌动蛋白-肌球蛋白相互作用,从而调节横纹肌的放松。TnI 亚家族包含三个基因:TnI-骨骼-快收缩,TnI-骨骼-慢收缩和TnI-心脏。这个基因编码TnI-心脏蛋白质,并在心脏肌肉组织中特异地表达。这个基因的突变导致家族性肥厚性心肌病7型 (CMH7) 和家族性限制性心肌病 (RCM)。肌钙蛋白I 在诊断心力衰竭和缺血性心脏病中是有用的。肌钙蛋白水平升高现在也被用作中度/重度2019年冠状病毒病 (COVID-19) 住院患者的急性心肌损伤的指标。在因COVID-19住院的心血管疾病患者中,这种升高也与更高的死亡风险相关。 [由RefSeq,2020年8月提供]
Related ID:
NCBI:7137
ENSEMBL:ENSG00000129991
HGNC:11947
UNIPROT:P19429
OMIM:191044
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
7137
1
8
5966 bp
24.01
608
13
8
25
TNNI3 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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