| 别名 | GAD1;GAD;GAD67;Glutamate decarboxylase 1;67 kDa glutamic acid decarboxylase;GAD-67;Glutamate decarboxylase 67 kDa isoform;GAD2;GAD65;Glutamate decarboxylase 2;65 kDa glutamic acid decarboxylase;GAD-65;Glutamate decarboxylase 65 |
| 基因名称 | GAD-65/67 |
| 蛋白名称 | Glutamate decarboxylase 1/2 |
| 推荐应用 | |
| 反应物种 | Human,Mouse,Rat |
| 存储缓冲液 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Human Gene Link | 2571;2572 |
| Human Swissprot No. | Q05329;Q99259 |
| Mouse Gene ID | 14415;14417 |
| 特异性 | endogenous |
| 稀释度 | IHC 1:200-1:1000;WB 1:5000-1:25000;IF 1:200-1:1000;ELISA 1:5000-1:20000;IP 1:50-1:200; |
| 参考分子量 | MW(Observed):65kD,67kD |
| 预测分子量 | MW(Calculated):65kD,67kD |
| 运输及保存条件 | -15°C to -25°C/1 year(Do not lower than -25°C) |
| 宿主 | Rabbit |
| 同种型 | IgG,Kappa |
| 背景介绍 | glutamate decarboxylase 1(GAD1) Homo sapiens This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008], |
| 细胞定位 | intracellular,plasma membrane,vesicle membrane,presynaptic active zone,clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane, |
| 功能 | Catalytic activity:L-glutamate = 4-aminobutanoate + CO(2).,cofactor:Pyridoxal phosphate.,Disease:Defects in GAD1 are the cause of autosomal recessive symmetric spastic cerebral palsy (SCP) [MIM:603513]. Cerebral palsy (CP) is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 250 to 1'000 live births, making CP one the commonest congenital disabilities. Non-progressive forms of symmetrical, spastic CP have been identified, which show a Mendelian autosomal recessive pattern of inheritance. Patients present developmental delay, mental retardation and sometimes epilepsy as part of the phenotype.,Function:Catalyzes the production of GABA.,online information:Glutamate decarboxylase entry,similarity:Belongs to the group II decarboxylase family.,subunit:Homodimer.,tissue specificity:Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain., |
| 纯化 | Protein A |
| Clonality | Monoclonal |
| 修饰类型 | Unmodified |
| 细胞定位 | intracellular,plasma membrane,vesicle membrane,presynaptic active zone,clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane, |
| 组织表达 | [Isoform 1]: Expressed in brain. ; [Isoform 3]: Expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain. |
| 研究领域 | >>Alanine, aspartate and glutamate metabolism;>>beta-Alanine metabolism;>>Taurine and hypotaurine metabolism;>>Butanoate metabolism;>>Metabolic pathways;>>GABAergic synapse;>>Type I diabetes mellitus |
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