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Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010]
[中文简述(自动翻译):]  电压依赖性钙通道介导的钙离子进入可兴奋细胞,并也参与多种钙依赖性过程,包括肌肉收缩,激素或神经递质释放和基因表达的。钙通道是α-1,β,α-2 /三角,和γ亚单位组成多亚基复合物。信道活动由孔形成的α-1亚单位指示,而,其他的作为辅助亚基调节此活动。钙通道类型的独特性质主要涉及多种α-1同种型,α-1A,B,C,D,E,和S这种基因的表达编码α-1A亚基,这主要是在神经组织??中表达。在这种基因突变与2神经系统疾病,家族性偏瘫性偏头痛和发作性共济失调2,该基因也显示出多晶型的变化,由于(CAG)正 - 重复相关联。已发现该基因编码不同亚型的多个抄本变形。在一组转录变体中,(CAG)的正 - 重复发生在3‘端非编码区,并且不与任何疾病相关。但在另一组变体,插入延伸的编码区,以包括(CAG)正 - 重复序列,其编码一个多聚谷氨酰胺道。在(CAG)的扩展,从正常的4-1正重复6中的编码区21-28与[由RefSeq的,2010年3月提供]脊髓小脑性共济失调6相关联
CACNA1A基因(以及对应的蛋白质)的细胞分布位置:
CACNA1A基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Episodic ataxia type 2 (disorder) | 0.5751248 | 55 | 32 | BeFree_CLINVAR_CTD_human_GAD_MGD_ORPHANET_UNIPROT |
| Spinocerebellar Ataxia Type 6 (disorder) | 0.4551248 | 50 | 6 | BeFree_CLINVAR_GAD_MGD_ORPHANET_UNIPROT |
| Hemiplegic migraine, familial type 1 | 0.331672 | 47 | 17 | BeFree_CTD_human_MGD_UNIPROT |
| Exfoliation Syndrome | 0.240271442 | 1 | 1 | BeFree_CTD_human_GWASCAT |
| Absence Epilepsy | 0.201628651 | 6 | 0 | BeFree_CTD_human_RGD |
| Ataxia, Spinocerebellar | 0.150157299 | 27 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Ataxia | 0.142493457 | 38 | 2 | BeFree_CTD_human_GAD_LHGDN |
| MIGRAINE, SPORADIC HEMIPLEGIC | 0.121900093 | 7 | 2 | BeFree_CLINVAR |
| Alternating hemiplegia of childhood | 0.120814326 | 3 | 0 | BeFree_ORPHANET |
| Epilepsy, Temporal Lobe | 0.08 | 1 | 0 | RGD |
| Familial Hemiplegic Migraine | 0.019272373 | 71 | 6 | BeFree |
| Migraine Disorders | 0.019140346 | 35 | 1 | BeFree_GAD_LHGDN |
| Migraine with Aura | 0.016435859 | 18 | 1 | BeFree_GAD_LHGDN |
| Cerebellar Ataxia | 0.013440067 | 16 | 2 | BeFree_GAD_LHGDN |
| Hemiplegic migraine | 0.009153079 | 26 | 3 | BeFree_GAD |
| Epilepsy | 0.007262917 | 10 | 0 | BeFree_GAD_LHGDN |
| Intellectual Disability | 0.0054487 | 2 | 0 | LHGDN |
| Episodic Ataxia | 0.005428837 | 20 | 0 | BeFree |
| Parkinson Disease | 0.005276948 | 4 | 0 | BeFree_GAD |
| Machado-Joseph Disease | 0.005167327 | 10 | 0 | BeFree_LHGDN |
| Cardiac Arrest | 0.005157396 | 19 | 0 | BeFree |
| Cerebellar Diseases | 0.004624443 | 7 | 0 | BeFree_LHGDN |
| Common Migraine | 0.003724241 | 6 | 0 | BeFree_GAD |
| Dystonia | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Headache | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Epilepsy, Generalized | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Hemiplegia | 0.002909916 | 3 | 0 | BeFree_GAD |
| Comatose | 0.00272435 | 1 | 0 | LHGDN |
| Epilepsies, Myoclonic | 0.00272435 | 1 | 0 | LHGDN |
| Guillain-Barre Syndrome | 0.00272435 | 1 | 0 | LHGDN |
| Atrophic | 0.00272435 | 1 | 0 | LHGDN |
| Myoclonic Epilepsies, Progressive | 0.00272435 | 1 | 0 | LHGDN |
| Brain Edema | 0.00272435 | 1 | 0 | LHGDN |
| Schizophrenia | 0.002638474 | 1 | 0 | BeFree_GAD |
| nervous system disorder | 0.002442977 | 9 | 0 | BeFree |
| Dentatorubral-Pallidoluysian Atrophy | 0.002442977 | 9 | 0 | BeFree |
| Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
| Restless Legs Syndrome | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Genomic Instability | 0.002367032 | 1 | 0 | GAD |
| Nystagmus | 0.002171535 | 8 | 1 | BeFree |
| Cerebellar atrophy | 0.002171535 | 8 | 1 | BeFree |
| Seizures | 0.001628651 | 6 | 1 | BeFree |
| Channelopathies | 0.001628651 | 6 | 0 | BeFree |
| Ataxic | 0.001357209 | 5 | 0 | BeFree |
| Progressive cerebellar ataxia | 0.001357209 | 5 | 1 | BeFree |
| Pallidoluysian degeneration | 0.001085767 | 4 | 0 | BeFree |
| Neurodegenerative Disorders | 0.001085767 | 4 | 0 | BeFree |
| Idiopathic generalized epilepsy | 0.000814326 | 3 | 0 | BeFree |
| Hyperphenylalaninaemia | 0.000814326 | 3 | 0 | BeFree |
| Episodic ataxia type 1 | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of urinary bladder | 0.000542884 | 2 | 0 | BeFree |
| Cluster Headache | 0.000542884 | 2 | 0 | BeFree |
| Paresis | 0.000542884 | 2 | 1 | BeFree |
| Retinitis Pigmentosa | 0.000542884 | 2 | 0 | BeFree |
| Torticollis | 0.000542884 | 2 | 0 | BeFree |
| Vertigo | 0.000542884 | 2 | 0 | BeFree |
| Muscle Weakness | 0.000542884 | 2 | 1 | BeFree |
| Neurologic Symptoms | 0.000542884 | 2 | 0 | BeFree |
| Basilar-Type Migraine | 0.000542884 | 2 | 0 | BeFree |
| Dystonia Disorders | 0.000542884 | 2 | 0 | BeFree |
| Carcinoma of bladder | 0.000542884 | 2 | 0 | BeFree |
| Spinocerebellar Ataxia Type 1 | 0.000542884 | 2 | 0 | BeFree |
| Familial migraine | 0.000542884 | 2 | 0 | BeFree |
| Abdominal Pain | 0.000271442 | 1 | 0 | BeFree |
| Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
| Huntington Disease | 0.000271442 | 1 | 0 | BeFree |
| Lethargy | 0.000271442 | 1 | 0 | BeFree |
| Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| Night Blindness | 0.000271442 | 1 | 0 | BeFree |
| Olivopontocerebellar Atrophies | 0.000271442 | 1 | 0 | BeFree |
| Phenylketonurias | 0.000271442 | 1 | 0 | BeFree |
| Retinal Degeneration | 0.000271442 | 1 | 0 | BeFree |
| Spastic Paraplegia, Hereditary | 0.000271442 | 1 | 0 | BeFree |
| Tremor | 0.000271442 | 1 | 0 | BeFree |
| Pleocytosis | 0.000271442 | 1 | 0 | BeFree |
| Prion Diseases | 0.000271442 | 1 | 0 | BeFree |
| Cerebellar degeneration | 0.000271442 | 1 | 0 | BeFree |
| Senile cardiac amyloidosis | 0.000271442 | 1 | 0 | BeFree |
| Isovaleryl-CoA dehydrogenase deficiency | 0.000271442 | 1 | 0 | BeFree |
| Marie Cerebellar Ataxia | 0.000271442 | 1 | 0 | BeFree |
| Vertical Nystagmus | 0.000271442 | 1 | 0 | BeFree |
| Hemiplegia, Crossed | 0.000271442 | 1 | 0 | BeFree |
| spells (neurological symptom) | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Migrainous vertigo | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Infantile Severe Myoclonic Epilepsy | 0.000271442 | 1 | 0 | BeFree |
| Ophthalmoparesis | 0.000271442 | 1 | 0 | BeFree |
| Spinocerebellar Ataxia Type 2 | 0.000271442 | 1 | 0 | BeFree |
| SPINOCEREBELLAR ATAXIA 26 | 0.000271442 | 1 | 0 | BeFree |
| MIGRAINE, FAMILIAL HEMIPLEGIC, 2 | 0.000271442 | 1 | 0 | BeFree |
| Episodic Ataxia, Type 7 | 0.000271442 | 1 | 0 | BeFree |
| AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | 0.000271442 | 1 | 0 | BeFree |
| Prostate cancer, familial | 0.000271442 | 1 | 0 | BeFree |
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