GAD1

Glutamate decarboxylase 1 (brain, 67kDa) (GAD67), also known as GAD1, is a human is_associated_with::gene.

This is_associated_with::gene encodes one of several forms of is_associated_with::glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The is_associated_with::enzyme encoded is responsible for catalyzing the production of is_associated_with::gamma-aminobutyric acid from is_associated_with::L-glutamic acid. A pathogenic role for this enzyme has been identified in the is_associated_with::human is_associated_with::pancreas since it has been identified as an autoantigen and an autoreactive is_associated_with::T cell target in insulin-dependent is_associated_with::diabetes. This gene may also play a role in the is_associated_with::stiff man syndrome. Deficiency in this enzyme has been shown to lead to is_associated_with::pyridoxine dependency with seizures. is_associated_with::Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form.

Interactions
GAD1 has been shown to interact with is_associated_with::GAD2.