GAD67 (GAD1) (NM_000817) Human Recombinant Protein
Product Specifications
Background
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]
Synonyms
CPSQ1; DEE89; GAD; SCP
Gene ID
2571
UniProt
Q99259, A0A0S2Z3V5, Q8IVA8
Accession Number mRNA
NM_000817
Chromosomal Location
2q31.1
Expression System
HEK293T
Tag
C-Myc/DDK
Related Pathways
Alanine, aspartate and glutamate metabolism, beta-Alanine metabolism, Butanoate metabolism, Metabolic pathways, Taurine and hypotaurine metabolism, Type I diabetes mellitus
Field of Research
Alanine, aspartate and glutamate metabolism, beta-Alanine metabolism, Butanoate metabolism, Metabolic pathways, Taurine and hypotaurine metabolism, Type I diabetes mellitus
Concentration
>50 ug/mL as determined by microplate BCA method
Purity
> 80% as determined by SDS-PAGE and Coomassie blue staining
Form
Liquid
Buffer
25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
Function
Druggable Genome
Molecular Weight
66.7 kDa
Storage Conditions
Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.
Symbol
GAD1
Species
Human
Protein ID
NP_000808
Overview
Recombinant protein of human glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/2571
Uniprot URL
https://www.uniprot.org/uniprot/Q99259
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_000817
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_000808
Curated Selection
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