AGA Human
Aspartylglucosaminidase, AGU, ASRG, GA.
Description
AGA is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Aspartylglucosaminidase, AGU, ASRG, GA.
Product Science Overview
Aspartylglucosaminidase (AGA) is an enzyme that plays a crucial role in the catabolism of N-linked oligosaccharides of glycoproteins. It is an amidohydrolase enzyme that cleaves asparagine from N-acetylglucosamines, which is one of the final steps in the lysosomal breakdown of glycoproteins . The recombinant form of this enzyme, known as human recombinant Aspartylglucosaminidase, is produced using recombinant DNA technology, which allows for the production of large quantities of the enzyme for research and therapeutic purposes.
Aspartylglucosaminidase deficiency leads to a rare lysosomal storage disorder known as Aspartylglucosaminuria (AGU). AGU is a recessively inherited disease that is most prevalent in the Finnish population . This disorder is characterized by the accumulation of glycoasparagines in tissues and body fluids due to the deficient activity of AGA. The clinical manifestations of AGU include progressive intellectual and physical disability, macrocephaly, hernias, and respiratory infections .
The genetic basis of AGU involves mutations in the AGA gene. A common mutation in the Finnish population is a single nucleotide change resulting in a cysteine to serine substitution (C163S) in the AGA enzyme protein . This mutation is responsible for 98% of AGU cases in Finland, making carrier detection and prenatal diagnosis relatively straightforward in this population .
Recombinant AGA is produced using recombinant DNA technology, which involves inserting the human AGA gene into a suitable expression system, such as bacteria or mammalian cells, to produce the enzyme in large quantities. This recombinant enzyme can be used for research purposes to study the biochemical properties and functions of AGA, as well as for potential therapeutic applications.
One of the potential therapeutic applications of recombinant AGA is enzyme replacement therapy (ERT) for AGU patients. In animal models, treatment with recombinant AGA has shown promising results in correcting the pathophysiological characteristics of AGU in non-neuronal tissues . However, enzyme replacement trials in human AGU patients have not yet been reported .
