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This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码在骨骼肌中发现了一个兰尼受体。编码的蛋白质的功能作为肌浆网钙释放通道,还可用于连接肌浆网和横向小管。在这种基因突变与恶性高热易感性,中央纤芯的疾病,以及与眼外肌麻痹的MiniCore肌病相关联。编码不同同种型的可变剪接转录物已有描述。 [由RefSeq的,2008年7月提供]
RYR1基因(以及对应的蛋白质)的细胞分布位置:
RYR1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Central Core Myopathy (disorder) | 0.605052927 | 98 | 79 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
| MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) | 0.560271442 | 2 | 13 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| Malignant hyperpyrexia due to anesthesia | 0.554927954 | 212 | 40 | BeFree_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
| Congenital Fiber Type Disproportion | 0.240542884 | 2 | 8 | BeFree_CLINVAR_UNIPROT |
| King Denborough syndrome | 0.240542884 | 2 | 1 | BeFree_CLINVAR_ORPHANET |
| Congenital Structural Myopathy | 0.121085767 | 4 | 0 | BeFree_CTD_human |
| Renal Cell Carcinoma | 0.12 | 1 | 0 | CTD_human |
| Sacral agenesis | 0.12 | 0 | 1 | CLINVAR |
| NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder) | 0.12 | 0 | 3 | CLINVAR |
| Malignant hyperthermia susceptibility type 1 | 0.12 | 0 | 0 | CTD_human |
| Myopathy | 0.023383727 | 49 | 0 | BeFree_LHGDN |
| Congenital myopathy (disorder) | 0.009229024 | 34 | 0 | BeFree |
| Contracture | 0.007338862 | 17 | 1 | BeFree_LHGDN |
| Multi-core congenital myopathy | 0.004071628 | 15 | 3 | BeFree |
| Myopathies, Nemaline | 0.003810118 | 5 | 1 | BeFree_LHGDN |
| Ophthalmoplegia | 0.003538676 | 4 | 0 | BeFree_LHGDN |
| Congenital Abnormality | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Cardiac Arrhythmia | 0.00272435 | 1 | 0 | LHGDN |
| Sudden death | 0.00272435 | 1 | 0 | LHGDN |
| Lymphoma | 0.00272435 | 1 | 0 | LHGDN |
| Rhabdomyolysis | 0.00272435 | 1 | 0 | LHGDN |
| Infection | 0.00272435 | 1 | 0 | LHGDN |
| Malignant neoplasm of prostate | 0.002638474 | 2 | 0 | BeFree_GAD |
| Hyperparathyroidism, Secondary | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Pena-Shokeir syndrome type I | 0.002367032 | 1 | 0 | GAD |
| Neuromuscular Diseases | 0.001357209 | 5 | 0 | BeFree |
| Paresis | 0.001357209 | 5 | 1 | BeFree |
| Muscle Weakness | 0.001357209 | 5 | 1 | BeFree |
| Centronuclear myopathy | 0.001085767 | 4 | 0 | BeFree |
| Myotonic Dystrophy | 0.000814326 | 3 | 0 | BeFree |
| Neuroleptic Malignant Syndrome | 0.000814326 | 3 | 0 | BeFree |
| External Ophthalmoplegia | 0.000814326 | 3 | 0 | BeFree |
| Absence of sensation | 0.000814326 | 3 | 0 | BeFree |
| Congenital Myotonic Dystrophy | 0.000814326 | 3 | 0 | BeFree |
| Rheumatoid Arthritis | 0.000542884 | 2 | 0 | BeFree |
| Hypertensive disease | 0.000542884 | 2 | 0 | BeFree |
| Cerebrovascular accident | 0.000542884 | 2 | 1 | BeFree |
| Akinesia | 0.000542884 | 2 | 0 | BeFree |
| Hypokalemic periodic paralysis | 0.000542884 | 2 | 0 | BeFree |
| Exertional rhabdomyolysis (disorder) | 0.000542884 | 2 | 0 | BeFree |
| Muscle damage | 0.000542884 | 2 | 1 | BeFree |
| Disorder of skeletal muscle | 0.000542884 | 2 | 0 | BeFree |
| VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) | 0.000542884 | 2 | 0 | BeFree |
| Cardiovascular Diseases | 0.000271442 | 1 | 0 | BeFree |
| Camurati-Engelmann Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Exanthema | 0.000271442 | 1 | 0 | BeFree |
| Heart failure | 0.000271442 | 1 | 0 | BeFree |
| Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
| HIV Infections | 0.000271442 | 1 | 0 | BeFree |
| Lambert-Eaton Myasthenic Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Muscle hypotonia | 0.000271442 | 1 | 0 | BeFree |
| Neurofibromatosis 1 | 0.000271442 | 1 | 0 | BeFree |
| Familial Periodic Paralysis | 0.000271442 | 1 | 0 | BeFree |
| Subarachnoid Hemorrhage | 0.000271442 | 1 | 0 | BeFree |
| Left Ventricular Hypertrophy | 0.000271442 | 1 | 0 | BeFree |
| Idiopathic pulmonary hypertension | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of bone | 0.000271442 | 1 | 0 | BeFree |
| Myalgia | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Camptocormia | 0.000271442 | 1 | 0 | BeFree |
| Cerebral Vasospasm | 0.000271442 | 1 | 0 | BeFree |
| Floppy infant syndrome | 0.000271442 | 1 | 0 | BeFree |
| Familial ventricular tachycardia | 0.000271442 | 1 | 0 | BeFree |
| Benign congenital hypotonia | 0.000271442 | 1 | 0 | BeFree |
| Gastrostomy site | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Disorder characterized by fever | 0.000271442 | 1 | 0 | BeFree |
| Proximal weakness | 0.000271442 | 1 | 0 | BeFree |
| Ophthalmoparesis | 0.000271442 | 1 | 0 | BeFree |
| Spots on skin | 0.000271442 | 1 | 0 | BeFree |
| periodic paralysis (finding) | 0.000271442 | 1 | 0 | BeFree |
| MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | 0.000271442 | 1 | 0 | BeFree |
| 3-Methylglutaconic Aciduria Type IV | 0.000271442 | 1 | 0 | BeFree |
| Brooke-Spiegler syndrome | 0.000271442 | 1 | 0 | BeFree |
| Neonatal Hypotonia | 0.000271442 | 1 | 0 | BeFree |
| Pulmonary arterial hypertension | 0.000271442 | 1 | 0 | BeFree |
| Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
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