GAD1

GAD1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2OKJ, 3VP6
Identifiers
Aliases	GAD1, CPSQ1, GAD, SCP, glutamate decarboxylase 1, DEE89
External IDs	OMIM: 605363 MGI: 95632 HomoloGene: 635 GeneCards: GAD1
Gene location (Human)
Chr.	Chromosome 2 (human)
End	170,861,151 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	70,432,358 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; middle temporal gyrus; ; Brodmann area 23; ; Brodmann area 10; ; external globus pallidus; ; frontal pole; ; orbitofrontal cortex; ; superior frontal gyrus; ; Brodmann area 46; ; secondary oocyte;
	Top expressed in
	globus pallidus; ; dorsal tegmental nucleus; ; cerebellar vermis; ; lateral geniculate nucleus; ; olfactory tubercle; ; nucleus accumbens; ; dorsomedial hypothalamic nucleus; ; lateral hypothalamus; ; superior colliculus; ; medial vestibular nucleus;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	protein binding; catalytic activity; lyase activity; protein heterodimerization activity; pyridoxal phosphate binding; carboxy-lyase activity; glutamate binding; glutamate decarboxylase activity; protein N-terminus binding;
Cellular component	vesicle membrane; plasma membrane; clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane; intracellular anatomical structure; presynaptic active zone; cytoplasm; cell cortex; axon; axon terminus; neuron projection terminus; synapse; inhibitory synapse;
Biological process	gamma-aminobutyric acid biosynthetic process; glutamate catabolic process; carboxylic acid metabolic process; neurotransmitter biosynthetic process; protein-pyridoxal-5-phosphate linkage; glutamate decarboxylation to succinate; chemical synaptic transmission; social behavior; locomotory exploration behavior; neurotransmitter secretion;
	Sources:Amigo / QuickGO
Orthologs
	2571
	14415
	ENSG00000128683
	ENSMUSG00000070880
	Q99259
	P48318
	NM_000817; NM_013445
	NM_008077; NM_001312900
	NP_000808; NP_038473
	NP_001299829; NP_032103
	Wikidata
View/Edit Human	View/Edit Mouse

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

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.

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