更多...
收起
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  本基因编码的γ-氨基丁酸(GABA)受体。 GABA是在哺乳动物大脑它作用于GABA-A受体,它们是配体门控氯离子通道的主要抑制性神经递质。这些通道的氯化物电导可由剂进行调制,如结合于GABA-A受体苯二氮。 GABA-A受体是五聚体,从多个亚单位组成的类蛋白:α,β,γ,δ和Rho。在该基因引起突变编码相同蛋白质青少年肌阵挛性癫痫和儿童失神癫痫类型4,多重转录变体已被确定为这个基因。 [由RefSeq的,2008年7月提供]
GABRA1基因(以及对应的蛋白质)的细胞分布位置:
GABRA1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Myoclonic Epilepsy, Juvenile | 0.248815624 | 6 | 1 | BeFree_CTD_human_GAD_LHGDN_ORPHANET |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 | 0.24 | 1 | 4 | CLINVAR_UNIPROT |
Hepatic Encephalopathy | 0.200271442 | 2 | 2 | BeFree_CTD_human_RGD |
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | 0.2 | 2 | 0 | MGD_UNIPROT |
Essential Tremor | 0.122909916 | 3 | 0 | BeFree_CTD_human_GAD |
Autistic Disorder | 0.122367032 | 2 | 0 | CTD_human_GAD |
Ataxia | 0.12 | 1 | 0 | CTD_human |
Ovarian Cysts | 0.12 | 1 | 0 | CTD_human |
AMYOTROPHIC LATERAL SCLEROSIS 1 | 0.12 | 1 | 0 | CTD_human |
Epilepsy, Childhood Absence, Susceptibility To, 4 | 0.12 | 0 | 0 | CLINVAR |
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 (disorder) | 0.12 | 0 | 3 | CLINVAR |
Alcoholic Intoxication, Chronic | 0.007915422 | 5 | 0 | BeFree_GAD |
Schizophrenia | 0.005819831 | 5 | 0 | BeFree_GAD |
Dystonia Disorders | 0.005091382 | 1 | 0 | GAD_LHGDN |
Bipolar Disorder | 0.005005506 | 2 | 0 | BeFree_GAD |
Epilepsy | 0.004810009 | 9 | 7 | BeFree_GAD |
Alcohol abuse | 0.004734064 | 2 | 0 | GAD |
Mood Disorders | 0.003452799 | 4 | 0 | BeFree_GAD |
Seizures | 0.002909916 | 3 | 2 | BeFree_GAD |
Liver Cirrhosis, Alcoholic | 0.002367032 | 1 | 0 | GAD |
Heroin Abuse | 0.002367032 | 1 | 0 | GAD |
Major Depressive Disorder | 0.002367032 | 1 | 0 | GAD |
Idiopathic generalized epilepsy | 0.000814326 | 3 | 0 | BeFree |
Absence Epilepsy | 0.000542884 | 2 | 0 | BeFree |
Psychotic Disorders | 0.000542884 | 2 | 0 | BeFree |
Infantile Severe Myoclonic Epilepsy | 0.000542884 | 2 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Drug abuse | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Familial benign neonatal epilepsy | 0.000271442 | 1 | 0 | BeFree |
Action Tremor | 0.000271442 | 1 | 0 | BeFree |
Lennox-Gastaut syndrome | 0.000271442 | 1 | 0 | BeFree |
Hypoalbuminemia | 0.000271442 | 1 | 2 | BeFree |
Nonorganic psychosis | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 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。