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This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]
[中文简述(自动翻译):]  该基因编码的α肌动蛋白结合蛋白基因家族的一个成员。所编码的蛋白质是在骨骼肌和功能,主要表示为肌节?线的一个结构部件。这种蛋白质是参与交联含细丝的肌动蛋白。等位基因多态性在编码和非编码的变体本基因的结果;该参考基因组代表编码等位基因。该基因的非功能性等位基因与优秀运动员状态相关联。 [由RefSeq的,2014年2月提供]
ACTN3基因(以及对应的蛋白质)的细胞分布位置:
ACTN3基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Glycogen Storage Disease Type V | 0.005362824 | 3 | 1 | BeFree_GAD_LHGDN |
Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
Sarcopenia | 0.002367032 | 1 | 0 | GAD |
Muscle damage | 0.000814326 | 3 | 0 | BeFree |
Dermatomyositis | 0.000271442 | 1 | 0 | BeFree |
Fatigue | 0.000271442 | 1 | 0 | BeFree |
Glycogen storage disease type II | 0.000271442 | 1 | 0 | BeFree |
Myositis | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Polymyositis | 0.000271442 | 1 | 0 | BeFree |
Adult type dermatomyositis | 0.000271442 | 1 | 0 | BeFree |
Generalized glycogen storage disease of infants | 0.000271442 | 1 | 0 | BeFree |
Flexed fetal attitude | 0.000271442 | 1 | 0 | BeFree |
Idiopathic Inflammatory Myopathies | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
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