GAD1
Description
The GAD1 (glutamate decarboxylase 1) is a protein-coding gene located on chromosome 2.
GAD1, also known as Glutamate decarboxylase 1 (brain, 67kDa) (GAD67), is a human gene encoding an enzyme responsible for catalyzing the production of gamma-aminobutyric acid (GABA) from L-glutamic acid. This enzyme is a major autoantigen in insulin-dependent diabetes and may play a role in stiff man syndrome. Deficiency in this enzyme can lead to pyridoxine dependency with seizures. The gene produces two isoforms: the predominant 67-kD form and a less-frequent 25-kD form. GAD1 interacts with GAD2.
This enzyme catalyzes the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) using pyridoxal 5'-phosphate as a cofactor.
GAD1 is also known as CPSQ1, DEE89, GAD, SCP.
