HPRT1 Human, Active
Description
Product Specs
Product Science Overview
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. The recombinant form of this enzyme, which is produced through genetic engineering techniques, is used in various research and therapeutic applications.
HGPRT is a transferase enzyme that catalyzes the conversion of hypoxanthine to inosine monophosphate (IMP) and guanine to guanosine monophosphate (GMP). This reaction involves the transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate (PRPP) to the purine base. The enzyme is composed of four identical subunits, each with its own active site .
The primary function of HGPRT is to salvage purines from degraded nucleic acids and reintroduce them into the purine synthetic pathways. This process is vital for maintaining the balance of purine nucleotides within the cell and ensuring the efficient use of cellular resources .
Mutations in the HPRT1 gene can lead to a deficiency in HGPRT activity, resulting in various metabolic disorders. One such disorder is Lesch-Nyhan syndrome, a rare genetic condition characterized by severe neurological and behavioral abnormalities, including self-injurious behavior. This syndrome is caused by a complete deficiency of HGPRT activity .
Another condition associated with HGPRT deficiency is Kelley-Seegmiller syndrome, which is characterized by partial enzyme activity (up to 20% less than normal). This condition leads to hyperuricemia, resulting in gouty arthritis and the formation of uric acid stones in the urinary tract .
The recombinant form of HGPRT is produced using genetic engineering techniques, allowing for the expression of the enzyme in various host systems such as bacteria, yeast, or mammalian cells. This recombinant enzyme is used in several research applications, including:
- Drug Discovery: HGPRT is a target for drug discovery efforts aimed at developing treatments for parasitic diseases such as malaria. Since parasites rely on the host’s purine salvage pathway, inhibitors of HGPRT can be effective in combating these infections .
- Gene Therapy: Recombinant HGPRT is used in gene therapy research to correct genetic deficiencies in patients with Lesch-Nyhan syndrome or Kelley-Seegmiller syndrome. By introducing a functional copy of the HPRT1 gene, researchers aim to restore normal enzyme activity and alleviate the symptoms of these disorders .
- Biochemical Studies: The recombinant enzyme is also used in biochemical studies to investigate the structure, function, and regulation of HGPRT. These studies provide valuable insights into the enzyme’s catalytic mechanism and its role in cellular metabolism .
