clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane
intracellular anatomical structure
presynaptic active zone
cytoplasm
cell cortex
axon
axon terminus
neuron projection terminus
synapse
inhibitory synapse
Biological process
gamma-aminobutyric acid biosynthetic process
glutamate catabolic process
carboxylic acid metabolic process
neurotransmitter biosynthetic process
protein-pyridoxal-5-phosphate linkage
glutamate decarboxylation to succinate
chemical synaptic transmission
social behavior
locomotory exploration behavior
neurotransmitter secretion
Sources:Amigo / QuickGO
Orthologs
Species
Human
Mouse
Entrez
2571
14415
Ensembl
ENSG00000128683
ENSMUSG00000070880
UniProt
Q99259
P48318
RefSeq (mRNA)
NM_000817 NM_013445
NM_008077 NM_001312900
RefSeq (protein)
NP_000808 NP_038473
NP_001299829 NP_032103
Location (UCSC)
Chr 2: 170.81 – 170.86 Mb
Chr 2: 70.38 – 70.43 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
Glutamate decarboxylase 1 (brain, 67kDa) (GAD67), also known as GAD1, is a human 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 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.[5]
^ abcGRCh38: Ensembl release 89: ENSG00000128683 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000070880 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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...
GAD65), which are encoded by two different genes on different chromosomes (GAD1 and GAD2 genes, chromosomes 2 and 10 in humans, respectively). GAD67 and...
Huang HS (September 2006). "Molecular and cellular mechanisms of altered GAD1/GAD67 expression in schizophrenia and related disorders". Brain Research...
consistently find that a subset of these neurons fail to express GAD67 (GAD1), in addition to abnormalities in brain morphometry. The subsets of interneurons...
type species is K. palaios, which means "old". The holotype skeleton, MNN GAD1, includes a maxilla (main tooth-bearing bone of the upper jaw), vertebrae...
in wheat Grain size GS3 in maize/corn and rice GS5 in rice An-1 in rice GAD1/RAE2 (smaller) in rice Yield SPL14/LOC4345998 in rice. pyl1, pyl4, pyl6 in...
their berries. These rosehip cells show an immunohistochemical profile (GAD1+CCK+, CNR1–SST–CALB2–PVALB–) matching a single transcriptomically defined...
is expressed, and in pyramidal cells, NRGN and REEP2 are also expressed. GAD1 – essential for the biosynthesis of the neurotransmitter GABA – is expressed...
are involved including cleft lip and palate transmembrane protein 1 and GAD1, One study found an association between mutations in the HYAL2 gene and cleft...
de-novo mutation. Specifically, mutations at chromosome 2 (possibly at the GAD1 gene), chromosome 4, chromosome 11 (possibly at the PVRL1 gene), or chromosome...
role in the stiff-person syndrome. GAD2 has been shown to interact with GAD1. Glutamate decarboxylase This article incorporates text from the United States...
important when studying the epigenetic phenomena underlying the disease. GAD1 – GAD1 codes for the protein GAD67, an enzyme that catalyzes the formation of...
gene itself is 28,930 base pairs long and is flanked by the EIF2S2P4 and GAD1 genes. There are no known paralogs of the ERICH2 gene. ERICH2 transcription...
Global Information
