GAD1/GAD2

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.,

regulation of neurotransmitter levels, succinate metabolic process, glutamate metabolic process, glutamate catabolic process, glutamate decarboxylation to succinate, cell-cell signaling, synaptic transmission, cellular amino acid catabolic process, glutamine family amino acid metabolic process, glutamine family amino acid catabolic process, amine catabolic process, organic acid catabolic process, protein-cofactor linkage, transmission of nerve impulse, neurotransmitter metabolic process, neurotransmitter biosynthetic process, dicarboxylic acid metabolic process, carboxylic acid catabolic process, neurological system process,

[Isoform 1]: Expressed in brain. ; [Isoform 3]: Expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain.