GAD2

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 autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]

Description

Glutamate decarboxylase 2

Tissue specificity

Group enriched (brain, retina)

Predicted location

Intracellular

Protein family

Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

10 (26216665 - 26304558)

Ensembl ID

ENSG00000136750  (ver. 103.38)

Orthologs

Mouse Gad2: ENSMUSG00000026787

UniProt

Q05329

neXtProt

NX_Q05329

Human splice variants
Mouse splice variants

Protein structure