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Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  钙蛋白酶,它由一个大和小亚单位的异源二聚体,是一个重要的胞内蛋白酶,尽管其功能尚未确立。该基因编码的蛋白酶大亚基家族特异性结合肌联蛋白的肌肉特异性构件。在这种基因突变与肢带型肌营养不良2A型相关联。备选推动者和选择性剪接的结果在多个抄本变形编码不同亚型以及一些变种普遍表达。 [由RefSeq的,2008年7月提供]
CAPN3基因(以及对应的蛋白质)的细胞分布位置:
CAPN3基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Limb-girdle muscular dystrophy type 2A | 0.573300652 | 55 | 36 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| Eosinophilic myositis (disorder) | 0.121085767 | 4 | 1 | BeFree_CLINVAR |
| Liver carcinoma | 0.08 | 1 | 0 | RGD |
| Muscular Dystrophies, Limb-Girdle | 0.035909779 | 58 | 2 | BeFree_LHGDN |
| Muscular Dystrophy | 0.023536955 | 19 | 0 | BeFree_GAD_LHGDN |
| Chronic Lymphocytic Leukemia | 0.002367032 | 1 | 0 | GAD |
| Myopathy | 0.001357209 | 5 | 0 | BeFree |
| Protein Deficiency | 0.001357209 | 5 | 0 | BeFree |
| Sarcoglycanopathies | 0.001357209 | 5 | 0 | BeFree |
| melanoma | 0.001085767 | 4 | 0 | BeFree |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.000814326 | 3 | 0 | BeFree |
| Muscular Atrophy | 0.000814326 | 3 | 0 | BeFree |
| Muscular Dystrophy, Facioscapulohumeral | 0.000814326 | 3 | 1 | BeFree |
| TIBIAL MUSCULAR DYSTROPHY, TARDIVE | 0.000814326 | 3 | 0 | BeFree |
| Neuromuscular Diseases | 0.000542884 | 2 | 0 | BeFree |
| Muscle degeneration | 0.000542884 | 2 | 0 | BeFree |
| Becker Muscular Dystrophy | 0.000542884 | 2 | 0 | BeFree |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B | 0.000542884 | 2 | 0 | BeFree |
| CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | 0.000542884 | 2 | 0 | BeFree |
| Dysferlinopathy | 0.000542884 | 2 | 0 | BeFree |
| Alpha-Sarcoglycanopathies | 0.000542884 | 2 | 0 | BeFree |
| Contracture | 0.000271442 | 1 | 0 | BeFree |
| Diabetes | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
| Diabetic cataract | 0.000271442 | 1 | 0 | BeFree |
| liposarcoma | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| Obesity | 0.000271442 | 1 | 0 | BeFree |
| Spastic Paraplegia | 0.000271442 | 1 | 0 | BeFree |
| Atrophic condition of skin | 0.000271442 | 1 | 0 | BeFree |
| Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
| Muscular Dystrophy, Emery-Dreifuss | 0.000271442 | 1 | 0 | BeFree |
| Congenital muscular dystrophy (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Hypereosinophilia | 0.000271442 | 1 | 0 | BeFree |
| Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
| Bethlem myopathy | 0.000271442 | 1 | 0 | BeFree |
| Miyoshi myopathy | 0.000271442 | 1 | 0 | BeFree |
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