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This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]
[中文简述(自动翻译):]  该基因编码高亲和性谷氨酸转运,在跨质膜运输谷氨酸发挥重要作用的成员。在脑,这些转运是在终止神经递质谷氨酸的突触后的动作,并在保持温度低于神经毒性水平细胞外谷氨酸浓度的关键。此转运也转运天冬氨酸盐,并在该基因的突变被认为造成dicarboxylicamino尿症,也称为谷氨酸 - 天冬氨酸转运缺陷。 [由RefSeq的,2010年3月提供]
SLC1A1基因(以及对应的蛋白质)的细胞分布位置:
SLC1A1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Dicarboxylicaminoaciduria | 0.440271442 | 1 | 2 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
Epilepsy | 0.120814326 | 4 | 0 | BeFree_CTD_human |
Epilepsy, Temporal Lobe | 0.120542884 | 2 | 0 | BeFree_CTD_human |
Seizures | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Brain Diseases | 0.12 | 1 | 0 | CTD_human |
Cognition Disorders | 0.12 | 1 | 0 | CTD_human |
Endometriosis | 0.12 | 1 | 0 | CTD_human |
Atrophic | 0.12 | 1 | 0 | CTD_human |
Malformations of Cortical Development | 0.12 | 1 | 0 | CTD_human |
SCHIZOPHRENIA 18 | 0.12 | 0 | 0 | CLINVAR |
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding) | 0.08 | 0 | 0 | MGD |
Obsessive-Compulsive Disorder | 0.018078323 | 23 | 1 | BeFree_GAD |
Schizophrenia | 0.008348685 | 12 | 1 | BeFree_GAD_LHGDN |
Osteochondritis Dissecans | 0.005428837 | 20 | 4 | BeFree |
Autistic Disorder | 0.005005506 | 2 | 0 | BeFree_GAD |
Multiple Sclerosis | 0.00272435 | 1 | 0 | LHGDN |
Mental disorders | 0.002638474 | 2 | 0 | BeFree_GAD |
Weight Gain | 0.002367032 | 1 | 0 | GAD |
Weight Gain Adverse Event | 0.002367032 | 1 | 0 | GAD |
Amyotrophic Lateral Sclerosis | 0.000542884 | 2 | 1 | BeFree |
nervous system disorder | 0.000542884 | 2 | 0 | BeFree |
Intraocular pressure disorder | 0.000542884 | 2 | 0 | BeFree |
Obsessive compulsive behavior | 0.000542884 | 2 | 1 | BeFree |
Autism Spectrum Disorders | 0.000542884 | 2 | 1 | BeFree |
Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Ischemia | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
Shy-Drager Syndrome | 0.000271442 | 1 | 0 | BeFree |
Stress, Psychological | 0.000271442 | 1 | 0 | BeFree |
Tuberculosis, Pulmonary | 0.000271442 | 1 | 0 | BeFree |
Unipolar Depression | 0.000271442 | 1 | 0 | BeFree |
Low Tension Glaucoma | 0.000271442 | 1 | 0 | BeFree |
Obsessions | 0.000271442 | 1 | 0 | BeFree |
Conventional (Clear Cell) Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Anaplastic Oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
Multiple System Atrophy | 0.000271442 | 1 | 0 | BeFree |
Cortical Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Recurrent seizures | 0.000271442 | 1 | 0 | BeFree |
Well Differentiated Oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
Major Depressive Disorder | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
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