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This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]
[中文简述(自动翻译):]  该基因属于TMEM43家庭。在这个基因的缺陷是家族性致心律失常性右心室发育不良型5(ARVD5),也被称为致心律失常性右室心肌病型5(ARVC5)的原因。致心律失常性右心室发育不良是一种遗传疾病,常累及两心室,其特征是室性心动过速,心脏衰竭,心源性猝死,与纤维脂肪替换心肌。该基因包含PPAR伽马(一种脂肪形成转录因子),这可以解释在纤维脂肪替代心肌,在常常表现为一个特征性的病理发现响应元素。 [由RefSeq的,2008年10月提供]
TMEM43基因(以及对应的蛋白质)的细胞分布位置:
TMEM43基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) | 0.36 | 1 | 2 | CLINVAR_CTD_human_UNIPROT |
| EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT | 0.24 | 1 | 2 | CLINVAR_UNIPROT |
| Arrhythmogenic Right Ventricular Dysplasia | 0.127262917 | 9 | 2 | BeFree_CLINVAR_GAD_LHGDN |
| Cardiomyopathies | 0.120271442 | 1 | 1 | BeFree_CLINVAR |
| Sudden Cardiac Death | 0.12 | 1 | 0 | CTD_human |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | 0.12 | 0 | 0 | ORPHANET |
| Heart failure | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Cardiomyopathy, Dilated | 0.000271442 | 1 | 1 | BeFree |
| Myopathy | 0.000271442 | 1 | 0 | BeFree |
| Muscular Dystrophy, Emery-Dreifuss | 0.000271442 | 1 | 0 | BeFree |
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