NP_000808.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
47,440 Da
NCBI Official Full Name
glutamate decarboxylase 1 isoform GAD67
NCBI Official Synonym Full Names
glutamate decarboxylase 1 (brain, 67kDa)
NCBI Protein Information
glutamate decarboxylase 1; GAD-67; 67 kDa glutamic acid decarboxylase; glutamate decarboxylase 67 kDa isoform
UniProt Protein Name
Glutamate decarboxylase 1
UniProt Synonym Protein Names
67 kDa glutamic acid decarboxylase; GAD-67; Glutamate decarboxylase 67 kDa isoform
UniProt Synonym Gene Names
UniProt Entry Name
DCE1_HUMAN
NCBI Summary for GAD67
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]
UniProt Comments for GAD67
GAD67: Catalyzes the production of GABA. Homodimer. Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain. Belongs to the group II decarboxylase family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Lyase; Other Amino Acids Metabolism - taurine and hypotaurine; Mitochondrial; EC 4.1.1.15; Other Amino Acids Metabolism - beta-alanine; Carbohydrate Metabolism - butanoate; Amino Acid Metabolism - alanine, aspartate and glutamate
Chromosomal Location of Human Ortholog: 2q31
Cellular Component: plasma membrane; intracellular; vesicle membrane
Molecular Function: protein binding; glutamate binding; glutamate decarboxylase activity; protein heterodimerization activity; protein N-terminus binding; pyridoxal phosphate binding
Biological Process: response to drug; glutamate catabolic process; synaptic transmission; glutamate decarboxylation to succinate; neurotransmitter secretion; gamma-aminobutyric acid biosynthetic process; protein-pyridoxal-5-phosphate linkage; neurotransmitter biosynthetic process
Disease: Cerebral Palsy, Spastic Quadriplegic, 1
Research Articles on GAD67
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Products associated with anti-GAD67 antibody
Pathways associated with anti-GAD67 antibody
Diseases associated with anti-GAD67 antibody
Organs/Tissues associated with anti-GAD67 antibody
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