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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]

Overview

Recombinant protein of human glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67

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

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

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