GAD2

Description

The GAD2 (glutamate decarboxylase 2) is a protein-coding gene located on chromosome 10.

Glutamate decarboxylase 2 (GAD2) is an enzyme that in humans is encoded by the GAD2 gene. This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded by GAD2 catalyzes the production of gamma-aminobutyric acid (GABA) from L-glutamic acid. GAD2 has been implicated in the pathogenesis of insulin-dependent diabetes, as it has been identified as an autoantibody and an autoreactive T cell target in this condition. This gene may also play a role in the stiff-person syndrome. GAD2 has been shown to interact with GAD1.

GAD2 is also known as GAD65.

Associated Diseases

• thyroid gland adenocarcinoma
• type 1 diabetes mellitus
• schizophrenia
• developmental and epileptic encephalopathy, 9
• juvenile myoclonic epilepsy
• autosomal dominant epilepsy with auditory features
• guanidinoacetate methyltransferase deficiency
• myoclonus-dystonia syndrome