GAD1 - glutamate decarboxylase 1 (brain, 67kDa)
Entrez Gene Name: glutamate decarboxylase 1 (brain, 67kDa)
Entrez GeneID: Human(2571)
, Mouse(14415), Rat(24379)
, Mouse(14415), Rat(24379) Synonyms: EP10, FLJ45882, GAD, GAD1, GAD25, GAD44, GAD67, Glutamic acid decarboxylase, SCP
Gene Summary
- Human (2571): 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. [provided by RefSeq]
- Rat (24379): plays a role in the biosynthesis of gamma-aminobutyric acid [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
carboxylic acid metabolic process, glutamate decarboxylation to succinate, neurotransmitter biosynthetic process, protein-pyridoxal-5-phosphate linkage, synaptic transmission
Literature References
- 18606818Luo Y, Lathia J, Mughal M, Mattson MP. SDF1{alpha}/CXCR4 Signaling, via ERKs and the Transcription Factor Egr1, Induces Expression of a 67-kDa Form of Glutamic Acid Decarboxylase in Embryonic Hippocampal Neurons.J Biol Chem 2008 Sep 05;283(36):24789-800
- 17652600Uchigashima M, Fukaya M, Watanabe M, Kamiya H. Evidence against GABA release from glutamatergic mossy fiber terminals in the developing hippocampus.J Neurosci 2007 Jul 25;27(30):8088-100
- 17376983Long JE, Garel S, Alvarez-Dolado M, Yoshikawa K, Osumi N, Alvarez-Buylla A, Rubenstein JL. Dlx-dependent and -independent regulation of olfactory bulb interneuron differentiation.J Neurosci 2007 Mar 21;27(12):3230-43 View 699 categorized literature findings and their references in IPA
Molecular Functions
carboxy-lyase activity, catalytic activity, glutamate decarboxylase activity, lyase activity, protein binding, pyridoxal phosphate binding
