1. Interactions

2. See also

3. References

4. Further reading

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.^[1]

Interactions

GAD1 has been shown to interact with GAD2.^[2]

See also

• Glutamate decarboxylase

References

Further reading

• {{cite journal | vauthors = Kelly CD, Edwards Y, Johnstone AP, Harfst E, Nógrádi A, Nussey SS, Povey S, Carter ND | title = Nucleotide sequence and chromosomal assignment of a cDNA encoding the large isoform of human glutamate decarboxylase | journal = Ann. Hum. Genet. | volume = 56 | issue = Pt 3 | pages = 255–65 | year = 1992 | pmid = 1339255 | doi = 10.1111/j.1469-1809.1992.tb01150.x }}
• {{cite journal | vauthors = Bu DF, Erlander MG, Hitz BC, Tillakaratne NJ, Kaufman DL, Wagner-McPherson CB, Evans GA, Tobin AJ | title = Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are each encoded by a single gene | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 89 | issue = 6 | pages = 2115–9 | year = 1992 | pmid = 1549570 | pmc = 48607 | doi = 10.1073/pnas.89.6.2115 }}
• {{cite journal | vauthors = Giorda R, Peakman M, Tan KC, Vergani D, Trucco M | title = Glutamic acid decarboxylase expression in islets and brain | journal = Lancet | volume = 338 | issue = 8780 | pages = 1469–70 | year = 1991 | pmid = 1683463 | doi = 10.1016/0140-6736(91)92781-V }}
• {{cite journal | vauthors = Persson H, Pelto-Huikko M, Metsis M, Söder O, Brene S, Skog S, Hökfelt T, Ritzén EM | title = Expression of the neurotransmitter-synthesizing enzyme glutamic acid decarboxylase in male germ cells | journal = Mol. Cell. Biol. | volume = 10 | issue = 9 | pages = 4701–11 | year = 1990 | pmid = 1697032 | pmc = 361065 | doi = }}
• {{cite journal | vauthors = Cram DS, Barnett LD, Joseph JL, Harrison LC | title = Cloning and partial nucleotide sequence of human glutamic acid decarboxylase cDNA from brain and pancreatic islets | journal = Biochem. Biophys. Res. Commun. | volume = 176 | issue = 3 | pages = 1239–44 | year = 1991 | pmid = 2039509 | doi = 10.1016/0006-291X(91)90418-7 }}
• {{cite journal | vauthors = Dirkx R, Thomas A, Li L, Lernmark A, Sherwin RS, De Camilli P, Solimena M | title = Targeting of the 67-kDa isoform of glutamic acid decarboxylase to intracellular organelles is mediated by its interaction with the NH2-terminal region of the 65-kDa isoform of glutamic acid decarboxylase | journal = J. Biol. Chem. | volume = 270 | issue = 5 | pages = 2241–6 | year = 1995 | pmid = 7836456 | doi = 10.1074/jbc.270.5.2241 }}
• {{cite journal | vauthors = Bu DF, Tobin AJ | title = The exon-intron organization of the genes (GAD1 and GAD2) encoding two human glutamate decarboxylases (GAD67 and GAD65) suggests that they derive from a common ancestral GAD | journal = Genomics | volume = 21 | issue = 1 | pages = 222–8 | year = 1994 | pmid = 8088791 | doi = 10.1006/geno.1994.1246 }}
• {{cite journal | vauthors = Yamashita K, Cram DS, Harrison LC | title = Molecular cloning of full-length glutamic acid decarboxylase 67 from human pancreas and islets | journal = Biochem. Biophys. Res. Commun. | volume = 192 | issue = 3 | pages = 1347–52 | year = 1993 | pmid = 8507202 | doi = 10.1006/bbrc.1993.1564 }}
• {{cite journal | vauthors = Kawasaki E, Moriuchi R, Watanabe M, Saitoh K, Brunicardi FC, Watt PC, Yamaguchi T, Mullen Y, Akazawa S, Miyamoto T | title = Cloning and expression of large isoform of glutamic acid decarboxylase from human pancreatic islet | journal = Biochem. Biophys. Res. Commun. | volume = 192 | issue = 3 | pages = 1353–9 | year = 1993 | pmid = 8507203 | doi = 10.1006/bbrc.1993.1565 }}
• {{cite journal | vauthors = Asada H, Kawamura Y, Maruyama K, Kume H, Ding R, Ji FY, Kanbara N, Kuzume H, Sanbo M, Yagi T, Obata K | title = Mice lacking the 65 kDa isoform of glutamic acid decarboxylase (GAD65) maintain normal levels of GAD67 and GABA in their brains but are susceptible to seizures | journal = Biochem. Biophys. Res. Commun. | volume = 229 | issue = 3 | pages = 891–5 | year = 1996 | pmid = 8954991 | doi = 10.1006/bbrc.1996.1898 }}
• {{cite journal | vauthors = McHale DP, Mitchell S, Bundey S, Moynihan L, Campbell DA, Woods CG, Lench NJ, Mueller RF, Markham AF | title = A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25 | journal = Am. J. Hum. Genet. | volume = 64 | issue = 2 | pages = 526–32 | year = 1999 | pmid = 9973289 | pmc = 1377761 | doi = 10.1086/302237 }}
• {{cite journal | vauthors = Chessler SD, Lernmark A | title = Alternative splicing of GAD67 results in the synthesis of a third form of glutamic-acid decarboxylase in human islets and other non-neural tissues | journal = J. Biol. Chem. | volume = 275 | issue = 7 | pages = 5188–92 | year = 2000 | pmid = 10671565 | doi = 10.1074/jbc.275.7.5188 }}
• {{cite journal | vauthors = Luo J, Kaplitt MG, Fitzsimons HL, Zuzga DS, Liu Y, Oshinsky ML, During MJ | title = Subthalamic GAD gene therapy in a Parkinson's disease rat model | journal = Science | volume = 298 | issue = 5592 | pages = 425–9 | year = 2002 | pmid = 12376704 | doi = 10.1126/science.1074549 }}
• {{cite journal | vauthors = Chessler SD, Hampe CS, Ortqvist E, Simonson WT, Bekris L | title = Immune reactivity to GAD25 in type 1 diabetes mellitus | journal = Autoimmunity | volume = 35 | issue = 5 | pages = 335–41 | year = 2002 | pmid = 12515288 | doi = 10.1080/0891693021000005402 }}
• {{cite journal | vauthors = Demakova EV, Korobov VP, Lemkina LM | title = [Determination of gamma-aminobutyric acid concentration and activity of glutamate decarboxylase in blood serum of patients with multiple sclerosis] | journal = Klin. Lab. Diagn. | volume = | issue = 4 | pages = 15–7 | year = 2003 | pmid = 12774663 | doi = }}
• {{cite journal | vauthors = Flace P, Benagiano V, Lorusso L, Girolamo F, Rizzi A, Virgintino D, Roncali L, Ambrosi G | title = Glutamic acid decarboxylase immunoreactive large neuron types in the granular layer of the human cerebellar cortex | journal = Anat. Embryol. | volume = 208 | issue = 1 | pages = 55–64 | year = 2004 | pmid = 15014985 | doi = 10.1007/s00429-003-0374-x }}
• {{cite journal | vauthors = De Luca V, Muglia P, Masellis M, Jane Dalton E, Wong GW, Kennedy JL | title = Polymorphisms in glutamate decarboxylase genes: analysis in schizophrenia | journal = Psychiatr. Genet. | volume = 14 | issue = 1 | pages = 39–42 | year = 2004 | pmid = 15091314 | doi = 10.1097/00041444-200403000-00006 }}
• {{cite journal | vauthors = Kanno K, Suzuki Y, Yamada A, Aoki Y, Kure S, Matsubara Y | title = Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population | journal = Am. J. Med. Genet. A | volume = 127A | issue = 1 | pages = 11–6 | year = 2004 | pmid = 15103710 | doi = 10.1002/ajmg.a.20649 }}

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