Target intelligence / Profile preview

Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT)

Target: HPRT
Molecular classification: Enzyme, Transferase

Overview

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) is a housekeeping enzyme that plays a central role in the purine salvage pathway. It catalyzes the conversion of hypoxanthine to inosine monophosphate (IMP) and guanine to guanosine monophosphate (GMP), using 5-phosphoribosyl 1-pyrophosphate (PRPP) as a co-substrate. Deficiency or mutations in HPRT cause Lesch-Nyhan syndrome, a rare X-linked recessive disorder characterized by uric acid overproduction and severe neurological symptoms.

Other names: HGPRTHGPTHGRTHGprt

Mechanism of action

N/A

Biological functions

Purine salvage pathwayNucleotide synthesisMaintenance of nucleotide pools

Disease associations

Lesch-Nyhan syndromeHyperuricemiaGoutKidney stones

Safety considerations

Altered expression in tumor cells

Biomarkers

HPRT activity in erythrocytesHPRT protein levels in tissues

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