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This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基??因编码的主要胞浆蛋白是通用的桥粒和中间路口近膜质斑块已知的唯一组成部分。这种蛋白质形成不同的复合物钙粘蛋白和钙粘素的桥粒,是连环蛋白家族的一员,因为它含有一种称为犰狳重复鲜明的重复氨基酸基序。在这种基因突变已与纳克索斯疾病有关。选择性剪接发生在这个基因;然而,并非所有的转录物已经被充分地描述。 [由RefSeq的,2008年7月提供]
JUP基因(以及对应的蛋白质)的细胞分布位置:
JUP基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Naxos disease | 0.44 | 0 | 4 | CLINVAR_CTD_human_MGD_ORPHANET |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 | 0.44 | 1 | 2 | CLINVAR_CTD_human_MGD_UNIPROT |
| Prostatic Neoplasms | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
| Liver diseases | 0.12 | 1 | 0 | CTD_human |
| No-Reflow Phenomenon | 0.12 | 1 | 0 | CTD_human |
| Epidermolysis bullosa, lethal acantholytic | 0.12 | 0 | 0 | ORPHANET |
| Hyperkeratosis, Epidermolytic | 0.08 | 0 | 0 | MGD |
| Arrhythmogenic Right Ventricular Dysplasia | 0.013907006 | 10 | 0 | BeFree_GAD_LHGDN |
| Bladder Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
| Renal Cell Carcinoma | 0.00272435 | 1 | 0 | LHGDN |
| Squamous cell carcinoma | 0.00272435 | 1 | 0 | LHGDN |
| Endometrial Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Rhabdomyosarcoma, Embryonal | 0.00272435 | 1 | 0 | LHGDN |
| Cardiomyopathies | 0.002638474 | 2 | 0 | BeFree_GAD |
| Cardiac Arrhythmia | 0.002367032 | 1 | 0 | GAD |
| Sudden Cardiac Death | 0.002367032 | 1 | 0 | GAD |
| Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
| Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Tachycardia | 0.000271442 | 1 | 0 | BeFree |
| Thyroid Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| CARCINOMA OF VULVA | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Acute Coronary Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
| Hereditary Diffuse Gastric Cancer | 0.000271442 | 1 | 0 | BeFree |
| Coronary Artery Disease | 0.000271442 | 1 | 0 | BeFree |
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