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The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质属于肌营养不良蛋白家族的dystrobrevin亚科。这种蛋白是肌养相关蛋白复合物(DPC),它由抗肌萎缩和几个积分和外周膜蛋白,包括dystroglycans,sarcoglycans,syntrophins和α-和β-dystrobrevin的一个组成部分。对DPC定位于肌膜及其中断与各种形式的肌营养不良相关联。在这个基因的突变与先天性心脏缺陷左心室致密化不全有关。编码不同同种型的多个可变剪接转录物变体已被确定为这个基因。 [由RefSeq的,2008年7月提供]
DTNA基因(以及对应的蛋白质)的细胞分布位置:
DTNA基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1 | 0.36 | 1 | 1 | CLINVAR_CTD_human_UNIPROT |
| Left ventricular noncompaction | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
| Meniere Disease | 0.120271442 | 1 | 1 | BeFree_CLINVAR |
| Muscular Dystrophy | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Coronary heart disease | 0.000271442 | 1 | 0 | BeFree |
| Myopathy | 0.000271442 | 1 | 0 | BeFree |
| Akinesia | 0.000271442 | 1 | 0 | BeFree |
| External Ophthalmoplegia | 0.000271442 | 1 | 0 | BeFree |
| Muscle damage | 0.000271442 | 1 | 0 | BeFree |
| Congenital muscular dystrophy (disorder) | 0.000271442 | 1 | 0 | BeFree |
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