GAA (NM_001079803) Human Recombinant Protein

Product Specifications

Background

This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Overview

Recombinant protein of human glucosidase, alpha; acid (GAA), transcript variant 2

Synonyms

LYAG

Gene ID

2548

UniProt

P10253

Accession Number mRNA

NM_001079803

Chromosomal Location

17q25.3

Expression System

HEK293T

Tag

C-Myc/DDK

Related Pathways

Galactose metabolism, Lysosome, Metabolic pathways, Starch and sucrose metabolism

Field of Research

Galactose metabolism, Lysosome, Metabolic pathways, Starch and sucrose metabolism

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, Transmembrane

Molecular Weight

102.5 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.