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This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此基因是原肌球蛋白家族参与横纹肌和平滑肌的收缩系统和非肌肉细胞的细胞骨架高度保守,广泛分布的肌动蛋白结合蛋白的成员。原肌球蛋白是由布置为卷曲螺旋两种α-螺旋链的。它是聚合的结束沿微丝的两个槽端,并提供稳定的长丝。所编码的蛋白质是一种类型的α螺旋链的形成横纹肌,在那里它与肌钙蛋白复合物协会还起到调节肌肉收缩时的肌动蛋白和肌球蛋白的钙依赖性相互作用的主要原肌球蛋白。在平滑肌和非肌肉细胞中,编码范围同种型的可变剪接转录物变体已有描述。在这种基因突变与3型家族性肥厚性心肌病相关联。 [由RefSeq的,2008年7月提供]
TPM1基因(以及对应的蛋白质)的细胞分布位置:
TPM1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) | 0.36 | 4 | 14 | CLINVAR_CTD_human_UNIPROT |
Cardiomyopathy, Dilated, 1y | 0.36 | 2 | 13 | CLINVAR_CTD_human_UNIPROT |
Cardiomyopathy, Hypertrophic, Familial | 0.247610304 | 19 | 5 | BeFree_CLINVAR_CTD_human_LHGDN |
Cardiomyopathies | 0.127252986 | 19 | 6 | BeFree_CLINVAR_GAD |
Platelet mean volume finding | 0.122367032 | 1 | 1 | GAD_GWASCAT |
Squamous cell carcinoma of esophagus | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Left ventricular noncompaction | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
Esophageal Neoplasms | 0.12 | 1 | 0 | CTD_human |
Hypertensive disease | 0.12 | 1 | 0 | CTD_human |
Keloid | 0.12 | 1 | 0 | CTD_human |
Hypertrophic Cardiomyopathy | 0.033971298 | 42 | 7 | BeFree_GAD_LHGDN |
Cardiomyopathy, Dilated | 0.015721222 | 18 | 2 | BeFree_GAD_LHGDN |
Myopathies, Nemaline | 0.006981544 | 18 | 1 | BeFree_GAD |
Mammary Neoplasms | 0.005720142 | 2 | 0 | BeFree_LHGDN |
Metabolic Syndrome X | 0.002638474 | 1 | 0 | BeFree_GAD |
Cardiomegaly | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Cardiomyopathy, Familial Idiopathic | 0.002367032 | 1 | 0 | GAD |
Hyperlipoproteinemia Type IIa | 0.001628651 | 6 | 2 | BeFree |
Malignant neoplasm of breast | 0.001085767 | 4 | 0 | BeFree |
Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Nemaline Myopathy, Autosomal Dominant | 0.000814326 | 3 | 2 | BeFree |
Renal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Glioma | 0.000542884 | 2 | 0 | BeFree |
Heart failure | 0.000542884 | 2 | 0 | BeFree |
Congestive heart failure | 0.000542884 | 2 | 0 | BeFree |
Familial dilated cardiomyopathy | 0.000542884 | 2 | 5 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Nemaline Myopathy, Autosomal Recessive | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Myopathy | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Left Ventricular Hypertrophy | 0.000271442 | 1 | 1 | BeFree |
Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Vagina Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma breast stage IV | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
Intrahepatic Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Observation of Neuromuscular Block | 0.000271442 | 1 | 2 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.000271442 | 1 | 1 | BeFree |
Malignant Conversion | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
Disorder of skeletal muscle | 0.000271442 | 1 | 0 | BeFree |
Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
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