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Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  肌动蛋白是高度保守的那些涉及各类细胞运动的蛋白质。球状??肌动蛋白(G-肌动蛋白)的聚合导致在两股螺旋形式的结构长丝(F-肌动蛋白)。每个肌动蛋白可以绑定到其他四个。由该基因编码的蛋白质属于肌动蛋白家族,其是由肌动蛋白同种型,α,β,和γ的三组主要的。阿尔法肌动蛋白在肌肉组织中发现,并且是收缩装置的主要成分。该基因缺陷已与原发性扩张型心肌病(IDC)和家族性肥厚型心肌病(FHC)有关。 [由RefSeq的,2008年7月提供]
ACTC1基因(以及对应的蛋白质)的细胞分布位置:
ACTC1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cardiomyopathy, Familial Hypertrophic, 11 | 0.24 | 4 | 0 | CTD_human_UNIPROT |
Atrial Septal Defect 5 | 0.24 | 1 | 0 | CTD_human_UNIPROT |
CARDIOMYOPATHY, DILATED, 1R | 0.2 | 1 | 0 | MGD_UNIPROT |
Cardiomyopathy, Dilated | 0.131368221 | 11 | 11 | BeFree_CTD_human_GAD |
Left ventricular noncompaction | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
Precancerous Conditions | 0.12 | 1 | 0 | CTD_human |
Refractive Errors | 0.12 | 1 | 0 | CTD_human |
Stomach Neoplasms | 0.12 | 1 | 0 | CTD_human |
Ostium secundum atrial septal defect | 0.12 | 0 | 0 | ORPHANET |
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | 0.12 | 0 | 0 | CTD_human |
Hypertensive disease | 0.08 | 1 | 0 | RGD |
Endotoxemia | 0.08 | 1 | 0 | RGD |
Hypertrophic Cardiomyopathy | 0.015916719 | 10 | 0 | BeFree_GAD_LHGDN |
Cardiomyopathies | 0.009087065 | 8 | 1 | BeFree_GAD_LHGDN |
Atrial Septal Defects | 0.003810118 | 4 | 0 | BeFree_LHGDN |
Myopathies, Nemaline | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Cardiomyopathy, Familial Idiopathic | 0.002638474 | 2 | 0 | BeFree_GAD |
Cardiomegaly | 0.002367032 | 1 | 0 | GAD |
Myopia | 0.002367032 | 1 | 0 | GAD |
Blood pressure finding | 0.002367032 | 1 | 1 | GAD |
Systemic arterial pressure | 0.002367032 | 1 | 1 | GAD |
Cardiomyopathy, Hypertrophic, Familial | 0.000542884 | 2 | 0 | BeFree |
Coronary heart disease | 0.000271442 | 1 | 0 | BeFree |
Patent ductus arteriosus | 0.000271442 | 1 | 0 | BeFree |
Congenital Heart Defects | 0.000271442 | 1 | 0 | BeFree |
Heart failure | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
Heart Septal Defects | 0.000271442 | 1 | 0 | BeFree |
Congenital heart disease | 0.000271442 | 1 | 0 | BeFree |
Myopia, Degenerative | 0.000271442 | 1 | 0 | BeFree |
Hyperlipoproteinemia Type IIa | 0.000271442 | 1 | 0 | BeFree |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) | 0.000271442 | 1 | 0 | BeFree |
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