HPRT1 Human
Description
Product Specs
Product Science Overview
HGPRT catalyzes the conversion of hypoxanthine to inosine monophosphate (IMP) and guanine to guanosine monophosphate (GMP) . This reaction involves the transfer of a 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate (PRPP) to the purine base . The enzyme’s activity is vital for maintaining the balance of purine nucleotides in the cell, which are the building blocks of DNA and RNA .
Mutations in the HPRT1 gene can lead to severe metabolic disorders. One such disorder is Lesch-Nyhan syndrome, a rare genetic condition characterized by neurological and behavioral abnormalities, as well as the overproduction of uric acid . This syndrome results from a deficiency of HGPRT, leading to the accumulation of hypoxanthine and guanine, which are then converted to uric acid . Another condition associated with HGPRT deficiency is Kelley-Seegmiller syndrome, which also involves hyperuricemia and gout .
Recombinant HGPRT refers to the enzyme produced through recombinant DNA technology, which involves inserting the HPRT1 gene into a suitable expression system to produce the enzyme in large quantities. This recombinant enzyme is used in various research applications, including studies on purine metabolism, drug development, and understanding the molecular basis of diseases associated with HGPRT deficiency .
Research on HGPRT has provided significant insights into the purine salvage pathway and its role in cellular metabolism. Studies have shown that HGPRT is essential for the survival of cells that rely heavily on purine salvage, such as certain types of cancer cells . Additionally, HGPRT inhibitors are being explored as potential therapeutic agents for treating diseases like cancer and parasitic infections .
In conclusion, Hypoxanthine-Guanine Phosphoribosyltransferase is a critical enzyme in purine metabolism, and its recombinant form has become an invaluable tool in biomedical research. Understanding its function and the consequences of its deficiency has paved the way for advancements in the diagnosis and treatment of related disorders.
