更多...
收起
This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
[中文简述(自动翻译):]  这个基因编码的电压依赖性钙通道的α-1亚单位。钙通道介导的钙离子的流入在膜极化的细胞。 α-1亚单位由24跨膜片段的,并且形成通过该离子传递进入细胞的孔。钙通道是由α-1,α-2 /三角,β和γ亚基的1的配合物:1:1:1的比例。有这些蛋白质的多个同种型,由不同的基因或转录物的可变剪接的结果要么编码。由该基因编码的蛋白质结合并通过二氢吡啶抑制。在许多转录剪接变异体导致编码不同的蛋白质。一些预测的蛋白质可能不产生功能性离子通道亚基。 [由RefSeq的,2012年10月提供]
CACNA1C基因(以及对应的蛋白质)的细胞分布位置:
CACNA1C基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Timothy syndrome | 0.566243163 | 24 | 4 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Brugada Syndrome 3 | 0.36 | 1 | 2 | CLINVAR_CTD_human_UNIPROT |
Bipolar Disorder | 0.269598434 | 50 | 7 | BeFree_CTD_human_GAD_GWASCAT |
Brugada Syndrome (disorder) | 0.244895885 | 9 | 4 | BeFree_CLINVAR_LHGDN_ORPHANET |
Schizophrenia | 0.13497291 | 34 | 6 | BeFree_GAD_GWASCAT |
Hypertensive disease | 0.125819831 | 5 | 0 | BeFree_CTD_human_GAD |
Long QT Syndrome | 0.121628651 | 6 | 1 | BeFree_CLINVAR |
Autistic Disorder | 0.121085767 | 5 | 0 | BeFree_CTD_human |
Paroxysmal familial ventricular fibrillation | 0.120271442 | 1 | 1 | BeFree_CLINVAR |
Cardiac Arrhythmia | 0.12 | 1 | 0 | CTD_human |
Hypoglycemia | 0.12 | 1 | 0 | CTD_human |
Immunologic Deficiency Syndromes | 0.12 | 1 | 0 | CTD_human |
Limb Deformities, Congenital | 0.12 | 1 | 0 | CTD_human |
Congenital long QT syndrome | 0.12 | 0 | 2 | CLINVAR |
Mental Depression | 0.006091273 | 6 | 2 | BeFree_GAD |
Inflammation | 0.005091382 | 2 | 0 | GAD_LHGDN |
Mental disorders | 0.004538567 | 8 | 1 | BeFree_GAD |
Unipolar Depression | 0.002985861 | 11 | 9 | BeFree |
Major Depressive Disorder | 0.002985861 | 11 | 9 | BeFree |
Atherosclerosis | 0.00272435 | 1 | 0 | LHGDN |
Sudden Cardiac Death | 0.00272435 | 1 | 0 | LHGDN |
Infection | 0.00272435 | 1 | 0 | LHGDN |
Hyperparathyroidism, Secondary | 0.002638474 | 1 | 0 | BeFree_GAD |
Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
Heart Diseases | 0.002367032 | 1 | 0 | GAD |
Inflammatory Bowel Diseases | 0.002367032 | 1 | 1 | GAD |
Myocardial Infarction | 0.002367032 | 1 | 0 | GAD |
Narcolepsy | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Mood Disorders | 0.002171535 | 8 | 3 | BeFree |
Psychotic Disorders | 0.001900093 | 7 | 4 | BeFree |
Borderline Personality Disorder | 0.001357209 | 5 | 1 | BeFree |
Depressive disorder | 0.001357209 | 5 | 2 | BeFree |
Nonorganic psychosis | 0.001357209 | 5 | 4 | BeFree |
Bronchopulmonary Dysplasia | 0.001085767 | 4 | 0 | BeFree |
Anxiety Disorders | 0.000542884 | 2 | 0 | BeFree |
Hypertrophic Cardiomyopathy | 0.000542884 | 2 | 0 | BeFree |
Parkinson Disease | 0.000542884 | 2 | 0 | BeFree |
Migraine Disorders | 0.000542884 | 2 | 2 | BeFree |
Anhedonia | 0.000542884 | 2 | 0 | BeFree |
Autism Spectrum Disorders | 0.000542884 | 2 | 0 | BeFree |
Depression, Bipolar | 0.000271442 | 1 | 0 | BeFree |
Bronchitis | 0.000271442 | 1 | 0 | BeFree |
CNS disorder | 0.000271442 | 1 | 0 | BeFree |
Cyclothymic Disorder | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Congenital Heart Defects | 0.000271442 | 1 | 0 | BeFree |
Atrial Septal Defects | 0.000271442 | 1 | 0 | BeFree |
Polycystic Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
Language Delay | 0.000271442 | 1 | 1 | BeFree |
Malignant hyperpyrexia due to anesthesia | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
Substance Dependence | 0.000271442 | 1 | 0 | BeFree |
Syndactyly | 0.000271442 | 1 | 0 | BeFree |
Attention Deficit Disorder | 0.000271442 | 1 | 0 | BeFree |
Essential Hypertension | 0.000271442 | 1 | 0 | BeFree |
Depressive Symptoms | 0.000271442 | 1 | 0 | BeFree |
Feeling powerless | 0.000271442 | 1 | 0 | BeFree |
Recurrent major depressive episodes | 0.000271442 | 1 | 0 | BeFree |
Age related macular degeneration | 0.000271442 | 1 | 0 | BeFree |
Simple renal cyst | 0.000271442 | 1 | 0 | BeFree |
Common Migraine | 0.000271442 | 1 | 0 | BeFree |
Familial Hemiplegic Migraine | 0.000271442 | 1 | 0 | BeFree |
Congenital deafness | 0.000271442 | 1 | 0 | BeFree |
Craniofacial Abnormalities | 0.000271442 | 1 | 0 | BeFree |
Dysmorphic features | 0.000271442 | 1 | 0 | BeFree |
Dissecting aneurysm of the thoracic aorta | 0.000271442 | 1 | 0 | BeFree |
Conn Syndrome | 0.000271442 | 1 | 0 | BeFree |
Drug Dependence | 0.000271442 | 1 | 0 | BeFree |
Channelopathies | 0.000271442 | 1 | 0 | BeFree |
Recurrent infections (sinusitis and bacterial pneumonia and meningitis) | 0.000271442 | 1 | 0 | BeFree |
EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION | 0.000271442 | 1 | 0 | BeFree |
Hypokalemic periodic paralysis type 1 | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。