信号通路： Alanine; aspartate and glutamate metabolism;beta-Alanine metabolism;Taurine and hypotaurine metabolism;Butanoate metabolism;Type I diabetes mellitus;
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.,
相关产品： RS0001,RS0002,YM3028,YM3029
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.
信号通路： Alanine; aspartate and glutamate metabolism;beta-Alanine metabolism;Taurine and hypotaurine metabolism;Butanoate metabolism;Type I diabetes mellitus;
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.,
相关产品： RS0001,RS0002,YM3028,YM3029
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.
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