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Gene : GAD1 Homo sapiens

Name  ? glutamate decarboxylase 1 Cytological Location  2q31.1
Brief Description  glutamate decarboxylase 1
Description  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, Jul 2008]
  • synonyms:
  • SCP,
  • GAD,
  • NM_000817,
  • GAD,
  • OTTHUMG00000044175,
  • GAD1,
  • glutamate decarboxylase 1 (brain, 67kD),
  • HGNC:4092,
  • CPSQ1,
  • uc002ugi.4,
  • glutamate decarboxylase 1 (brain, 67kDa)
  • identifiers:
  • 2571,
  • ENSG00000128683,
  • GAD1

Genome feature

Region: gene ? Length: 47942  
Location: 2:170813210-170861151 Cyto location: 2q31.1


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Proteins

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SNPs

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Disease

1 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results