GAD1

GENE INFORMATION

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Gene name

GAD1 (HGNC Symbol)

Synonyms

GAD

Description

glutamate decarboxylase 1 (brain, 67kDa) (HGNC Symbol)

Entrez gene summary

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]

Chromosome

2 (Chromosome progress)

Cytoband

q31.1

Chromosome location (bp)

171669723 - 171717661

Ensembl

ENSG00000128683 (version 73.37)

Entrez gene

2571

UniProt

Q99259 (UniProt - Evidence at protein level)

neXtProt

NX_Q99259

Antibodypedia

GAD1 antibodies
 

PROTEIN VIEW

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GAD1-001
 
GAD1-002
 
GAD1-003
 
GAD1-007
 
GAD1-008
 
GAD1-009
 
GAD1-010
 
GAD1-013
 
GAD1-015
 
GAD1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GAD1-001 ENSP00000350928
ENST00000358196
Q99259
Show all »
Show » Show » 594 66.9 No 0
GAD1-002 ENSP00000341167
ENST00000344257
Q99259
Show all »
Show » Show » 224 25.3 No 0
GAD1-003 ENSP00000434696
ENST00000493875
Q49AK1
Show all »
Show » Show » 425 47.4 No 0
GAD1-007 ENSP00000402366
ENST00000454603
C9JLZ7
Show all »
Show » 85 9.2 No 0
GAD1-008 ENSP00000394948
ENST00000445006
C9JN45
Show all »
Show » 37 3.8 No 0
GAD1-009 ENSP00000405917
ENST00000455008
C9J6C9
Show all »
Show » 115 12.7 No 0
GAD1-010 ENSP00000394255
ENST00000456864
C9JT43
Show all »
Show » 121 13.4 No 0
GAD1-013 ENSP00000403849
ENST00000414527
F8WD43
Show all »
Show » 233 26.1 No 0
GAD1-015 ENSP00000476147
ENST00000486850
84 9.4 No 0
GAD1-201 ENSP00000364421
ENST00000375272
Q99259
Show all »
Show » Show » 224 25.3 No 0