This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form.JB Travers, Chem Senses, Feb 2007; 32: 129 - 137.Rita Sulahian, Nucleic Acids Res., Mar 2006; 34: 1351 - 1357.Andrea Pillai, Development, Jan 2007; 134: 357 - 366.Dmytro P. Yevtushenko, J. Exp. Bot., Aug 2003; 54: 2001 - 2002.
Host
Rabbit
Immunogen
Synthesized peptide derived from Human GAD1/GAD2.
Raised In
Rabbit
Reactivity
Human, Mouse
Regulatory
RUO
Relevance
This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form.
JB Travers, Chem Senses, Feb 2007; 32: 129 - 137. Rita Sulahian, Nucleic Acids Res., Mar 2006; 34: 1351 - 1357. Andrea Pillai, Development, Jan 2007; 134: 357 - 366. Dmytro P. Yevtushenko, J. Exp. Bot., Aug 2003; 54: 2001 - 2002.
Species
Homo Sapiens (Human)
Specificity
The antibody detects endogenous levels of total GAD1/GAD2 protein.