Glutamic acid decarboxylase(GAD) catalyses the conversion of L-glutamic acid to the inhibitory neurotransmitter gamma-aminobutyric acid(GABA). Two forms of human GAD, GAD65 and GAD67, are encoded by two separate genes. Human GAD65 cDNA encodes a Mr 65,000 polypeptide, with 585 amino acid residues, whereas human GAD67 encodes a Mr 67,000 polypeptide, with 594 amino acid residues. GAD67 gene consists of 16 exons, spread over more than 45 kb of genomic DNA. The GAD67 gene contains an additional exon(exon 0) that together with part of exon 1, specifies the 5 untranslated region of GAD67 mRNA. Human GAD67 shows 65% identity to GAD65 and is located in 2q31. GAD67 may play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures.
