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Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  电压门控钠通道是一个大的α亚基具有24个跨膜结构域和一个或多个调节β亚基组成的跨膜糖蛋白复合物。他们负责在神经元和肌肉产生和动作电位的传播。该基因编码的钠通道α亚基基因家族中的一个成员。它是在骨骼肌中表达,并且在该基因的突变已与若干肌强直和周期性麻痹症。 [由RefSeq的,2008年7月提供]
SCN4A基因(以及对应的蛋白质)的细胞分布位置:
SCN4A基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Hyperkalemic periodic paralysis | 0.569238955 | 29 | 4 | BeFree_CLINVAR_CTD_human_LHGDN_MGD_ORPHANET_UNIPROT |
| Hypokalemic Periodic Paralysis, Type 2 | 0.440542884 | 9 | 8 | BeFree_CLINVAR_CTD_human_MGD_UNIPROT |
| Potassium aggravated myotonia | 0.362442977 | 19 | 1 | BeFree_CTD_human_ORPHANET_UNIPROT |
| Hypokalemic periodic paralysis | 0.251691864 | 25 | 6 | BeFree_CTD_human_LHGDN_ORPHANET |
| Hypokalemic periodic paralysis type 1 | 0.242442977 | 9 | 7 | BeFree_CLINVAR_CTD_human |
| Myotonia Fluctuans (disorder) | 0.24 | 0 | 4 | CLINVAR_ORPHANET |
| Paramyotonia Congenita (disorder) | 0.128414698 | 38 | 9 | BeFree_UNIPROT |
| Myotonia | 0.1254487 | 3 | 0 | CTD_human_LHGDN |
| Myotonia Congenita | 0.123452799 | 6 | 0 | BeFree_CTD_human_GAD |
| Myotonic Disorders | 0.122995792 | 2 | 0 | BeFree_CTD_human_LHGDN |
| Myasthenic Syndromes, Congenital | 0.121357209 | 6 | 0 | BeFree_CTD_human |
| Normokalemic Periodic Paralysis, Potassium-Sensitive | 0.120271442 | 1 | 2 | BeFree_CLINVAR |
| MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE | 0.12 | 1 | 0 | UNIPROT |
| Myasthenic Syndrome due to Mutation in SCN4A | 0.12 | 0 | 2 | CLINVAR |
| Familial Periodic Paralysis | 0.006795978 | 16 | 2 | BeFree_LHGDN |
| periodic paralysis (finding) | 0.003528744 | 13 | 2 | BeFree |
| Thyrotoxic periodic paralysis | 0.002638474 | 2 | 0 | BeFree_GAD |
| Myopathy | 0.001357209 | 5 | 1 | BeFree |
| Normokalemic Periodic Paralysis | 0.001357209 | 5 | 4 | BeFree |
| Channelopathies | 0.001357209 | 5 | 0 | BeFree |
| Generalized Myotonia of Thomsen | 0.001357209 | 5 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000814326 | 3 | 0 | BeFree |
| Myotonic Dystrophy | 0.000814326 | 3 | 0 | BeFree |
| Neuromuscular Diseases | 0.000814326 | 3 | 0 | BeFree |
| Pain | 0.000814326 | 3 | 1 | BeFree |
| Congenital Myotonic Dystrophy | 0.000814326 | 3 | 0 | BeFree |
| Non dystrophic myotonia | 0.000814326 | 3 | 0 | BeFree |
| HYPERPIGMENTATION, FAMILIAL PROGRESSIVE | 0.000814326 | 3 | 0 | BeFree |
| Laryngismus | 0.000542884 | 2 | 0 | BeFree |
| Malignant hyperpyrexia due to anesthesia | 0.000542884 | 2 | 0 | BeFree |
| Muscular stiffness | 0.000542884 | 2 | 0 | BeFree |
| LARYNGOSPASM, SEVERE NEONATAL EPISODIC | 0.000542884 | 2 | 0 | BeFree |
| Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
| Charcot-Marie-Tooth Disease | 0.000271442 | 1 | 1 | BeFree |
| Fatigue | 0.000271442 | 1 | 0 | BeFree |
| Muscle Hypertonia | 0.000271442 | 1 | 1 | BeFree |
| Muscle Rigidity | 0.000271442 | 1 | 0 | BeFree |
| Myelomonocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Peripheral Neuropathy | 0.000271442 | 1 | 0 | BeFree |
| Tachycardia | 0.000271442 | 1 | 0 | BeFree |
| Ventricular Fibrillation | 0.000271442 | 1 | 0 | BeFree |
| Fibrillation | 0.000271442 | 1 | 0 | BeFree |
| Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Respiratory distress | 0.000271442 | 1 | 0 | BeFree |
| Monoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
| PAROXYSMAL EXTREME PAIN DISORDER | 0.000271442 | 1 | 0 | BeFree |
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