FUNCTION: SwissProt: Q99259 # Catalyzes the production of GABA.
COFACTOR: Pyridoxal phosphate.
SIZE: 594 amino acids; 66897 Da
SUBUNIT: Homodimer.
TISSUE SPECIFICITY: Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain.
DISEASE: SwissProt: Q99259 # 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.
SIMILARITY: SwissProt: Q99259 ## Belongs to the group II decarboxylase family.