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Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]
[中文简述(自动翻译):]  肌钙蛋白是横纹肌收缩的中央调节蛋白,并与原肌球蛋白一起,位于肌动蛋白丝。肌钙蛋白由3个亚基:肌钙蛋白,这是肌动球蛋白ATP酶活性的抑制剂; TNT,其中包含原肌球蛋白的结合位点;和TNC,由该基因编码的蛋白质。钙与肌钙蛋白结合废除肌钙蛋白的抑制作用,因此允许肌动蛋白与肌球蛋白的相互作用,ATP的水解,和张力的产生。在这种基因突变与心肌扩张型1Z相关联。 [由RefSeq的,2008年10月提供]
TNNC1基因(以及对应的蛋白质)的细胞分布位置:
TNNC1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cardiomyopathy, Dilated, 1z | 0.36 | 1 | 1 | CLINVAR_CTD_human_UNIPROT |
Cardiomyopathy, Familial Hypertrophic, 13 | 0.36 | 2 | 5 | CLINVAR_CTD_human_UNIPROT |
Cardiomyopathy, Dilated | 0.133254501 | 12 | 2 | BeFree_CLINVAR_GAD_LHGDN |
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | 0.12 | 0 | 0 | CTD_human |
Hypertrophic Cardiomyopathy | 0.009901391 | 11 | 3 | BeFree_GAD_LHGDN |
Cardiomyopathies | 0.004895885 | 8 | 2 | BeFree_LHGDN |
Restrictive cardiomyopathy | 0.00272435 | 1 | 0 | LHGDN |
Cardiomyopathy, Familial Idiopathic | 0.000814326 | 3 | 0 | BeFree |
Disorder of Achilles tendon | 0.000814326 | 3 | 0 | BeFree |
Squamous cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Degenerative polyarthritis | 0.000542884 | 2 | 0 | BeFree |
Systemic Scleroderma | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Extrinsic allergic alveolitis | 0.000271442 | 1 | 0 | BeFree |
Asthma | 0.000271442 | 1 | 0 | BeFree |
Autistic Disorder | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Dentinogenesis Imperfecta | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Heart failure | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
Osteogenesis Imperfecta | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Rubinstein-Taybi Syndrome | 0.000271442 | 1 | 0 | BeFree |
Proliferative diabetic retinopathy | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Familial dilated cardiomyopathy | 0.000271442 | 1 | 5 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Idiopathic Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
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