Hypoxanthine-Guanine Phosphoribosyltransferase (HGPRT) is an enzyme encoded by the HPRT1 gene in humans. This enzyme plays a crucial role in the purine salvage pathway, which is essential for recycling purines from degraded DNA and RNA to synthesize new nucleotides .
Function: HGPRT catalyzes the conversion of hypoxanthine to inosine monophosphate (IMP) and guanine to guanosine monophosphate (GMP) by transferring the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate (PRPP) to the purine bases . This reaction is vital for maintaining the balance of purine nucleotides within the cell.
Structure: The enzyme is composed of four identical subunits, each with its own active site. The structure of HGPRT includes the nucleotide product, guanine monophosphate, just before it is released for use by the cell .
Role in Disease: Mutations in the HPRT1 gene can lead to severe metabolic disorders. For instance, Lesch-Nyhan syndrome is caused by a deficiency of HGPRT, leading to the accumulation of purine bases and severe neurological problems, including self-injury behaviors . Partial deficiencies in HGPRT activity can result in hyperuricemia and gout, as seen in Kelley-Seegmiller syndrome .
Mouse Anti-Human HGPRT Antibody is a monoclonal antibody specifically designed to target and bind to the human HGPRT enzyme. This antibody is commonly used in various research applications, including Western blotting, immunohistochemistry, and enzyme-linked immunosorbent assays (ELISA) .
Production and Specificity: The antibody is produced by immunizing mice with human HGPRT protein, leading to the generation of hybridoma cells that secrete the desired antibody. The resulting monoclonal antibody is highly specific to human HGPRT and can detect the enzyme in various biological samples .
Applications:
Significance in Research: The mouse anti-human HGPRT antibody is a valuable tool in biomedical research. It allows scientists to study the enzyme’s function, regulation, and involvement in diseases. Additionally, it aids in the development of therapeutic strategies targeting HGPRT-related disorders .