GAD1
Sign in to saveAlso known as CPSQ1, GAD, SCP, glutamate decarboxylase 1, DEE89
Glutamate decarboxylase 1 (brain, 67kDa) (GAD67), also known as GAD1, is a human gene.
Gene data
GAD1- Name
- glutamate decarboxylase 1
- Type
- protein-coding
- Position
- 170,813,213–170,861,151 (+)
- Aliases
- CPSQ1, DEE89, GAD, GAD-67, SCP
- Ensembl
- ENSG00000128683
- RefSeq RNA
- NM_000817.3, NM_001445663.1, NM_001445664.1, NM_001445665.1, NM_001445666.1
- RefSeq protein
- NP_000808.2, NP_001432592.1, NP_001432593.1, NP_001432594.1, NP_001432595.1
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. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
glutamate decarboxylase 1
- Symbol
- GAD1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:170,813,213-170,861,151
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
4 sectionsContents
- Interactions
- See also
- References
- Further reading
Glutamate decarboxylase 1 (brain, 67kDa) (GAD67), also known as GAD1, is a human gene.
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.
Excerpted from Wikipedia’s “GAD1” article, available under the CC BY-SA 4.0 licence.