HPRT Monoclonal Antibody, 100ul Nucleic Acid Isolation & Purification Defects in this gene are

Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1)| also called X-linked congenital stationary night blindness (XLCSNB)

They may also be involved in protein complexes that activate proinflammatory caspases (Tschopp et al

and is known to be an important co-receptor for macrophage-tropic virus

essential proteins involved in the innate immune response to viral infection

This component| XPC| plays an important role in the early steps of global genome NER| especially in damage recognition| open complex formation| and repair protein complex formation

HPRT Monoclonal Antibody, 100ul Nucleic Acid Isolation & Purification Defects in this gene areThe protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5 phosphoribosyl group from 5 phosphoribosyl 1 pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch Nyhan syndrome or gout.