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Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  肌节组件由肌肉蛋白质肌联蛋白调节。肌联蛋白是一个巨大的弹性蛋白与该延伸的肌节的长度的一半激酶活性。它作为向其中的肌原纤维和其他肌肉相关蛋白附着的支架。该基因编码在结合所述肌联蛋白Z 1 -Z 2域和是肌联蛋白激酶,被认为是对肌节组件至关重要的相互作用的基板横纹肌和心肌中发现的蛋白质。在这种基因突变与肢带型肌营养不良2G相关联。 [由RefSeq的,2008年7月提供]
TCAP基因(以及对应的蛋白质)的细胞分布位置:
TCAP基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Muscular Dystrophy, Limb-Girdle, Type 2G | 0.44 | 0 | 3 | CLINVAR_CTD_human_MGD_ORPHANET |
CARDIOMYOPATHY, DILATED, 1N | 0.36 | 2 | 4 | CLINVAR_CTD_human_UNIPROT |
Cardiomyopathy, Dilated | 0.007915422 | 5 | 0 | BeFree_GAD |
Hypertrophic Cardiomyopathy | 0.007729856 | 3 | 0 | BeFree_GAD_LHGDN |
Cardiomyopathies | 0.002909916 | 2 | 0 | BeFree_GAD |
Muscular Dystrophies, Limb-Girdle | 0.002442977 | 9 | 0 | BeFree |
Cardiomyopathy, Familial Idiopathic | 0.002367032 | 1 | 0 | GAD |
Muscular Dystrophy | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Myopathy | 0.000271442 | 1 | 0 | BeFree |
Weakness of limb | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Sarcoglycanopathies | 0.000271442 | 1 | 0 | BeFree |
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