GAD1

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Glutamate decarboxylase 1 (brain, 67kDa)
Protein GAD1 PDB 2okj.png
PDB rendering based on 2okj.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols GAD1 ; CPSQ1; GAD; SCP
External IDs OMIM605363 MGI95632 HomoloGene635 ChEMBL: 2614 GeneCards: GAD1 Gene
EC number 4.1.1.15
RNA expression pattern
PBB GE GAD1 205278 at tn.png
PBB GE GAD1 206670 s at tn.png
PBB GE GAD1 206669 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2571 14415
Ensembl ENSG00000128683 ENSMUSG00000070880
UniProt Q99259 P48318
RefSeq (mRNA) NM_000817 NM_008077
RefSeq (protein) NP_000808 NP_032103
Location (UCSC) Chr 2:
171.67 – 171.72 Mb
Chr 2:
70.55 – 70.6 Mb
PubMed search [1] [2]

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

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]

See also[edit]

Interactions[edit]

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

References[edit]

  1. ^ a b "Entrez Gene: GAD1 glutamate decarboxylase 1 (brain, 67kDa)". 
  2. ^ Dirkx, R; Thomas A; Li L; Lernmark A; Sherwin R S; De Camilli P; Solimena M (February 1995). "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". J. Biol. Chem. (UNITED STATES) 270 (5): 2241–6. doi:10.1074/jbc.270.5.2241. ISSN 0021-9258. PMID 7836456. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.