GAD2

GAD2
Identifiers
AliasesGAD2, GAD65, glutamate decarboxylase 2
External IDsOMIM: 138275; MGI: 95634; GeneCards: GAD2
Available structures
PDBOrtholog search: PDBe RCSB
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
4.1.1.15↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

2572

14417

Ensembl

ENSG00000136750

ENSMUSG00000026787

UniProt

Q05329

P48320

RefSeq (mRNA)

NM_001134366
NM_000818

NM_008078

RefSeq (protein)

NP_000809
NP_001127838

NP_032104

Location (UCSC)Chr 10: 26.22 – 26.3 MbChr 2: 22.51 – 22.58 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Glutamate decarboxylase 2 is an enzyme that in humans is encoded by the GAD2 gene.[5]

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-person syndrome.[6]

Interactions

GAD2 has been shown to interact with GAD1.[7]

See also

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


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136750 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026787 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Cram DS, Barnett LD, Joseph JL, Harrison LC (July 1991). "Cloning and partial nucleotide sequence of human glutamic acid decarboxylase cDNA from brain and pancreatic islets". Biochem. Biophys. Res. Commun. 176 (3): 1239–44. doi:10.1016/0006-291X(91)90418-7. PMID 2039509.
  6. ^ "Entrez Gene: GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)".
  7. ^ Dirkx R, Thomas A, Li L, Lernmark A, Sherwin RS, 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. 270 (5): 2241–6. doi:10.1074/jbc.270.5.2241. PMID 7836456.


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