HPRT1
Function
Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.
Involvement in disease
Lesch-Nyhan syndrome
LNS
Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, intellectual disability, and compulsive self-mutilation.
None
The disease is caused by variants affecting the gene represented in this entry.
Hyperuricemia, HPRT-related
HRH
An X-linked metabolic disorder characterized by uric acid excess in the blood, renal stones, uric acid nephropathy, and renal obstruction. After puberty, the hyperuricemia may cause gout.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Purine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1.
Sequence Similarities
Belongs to the purine/pyrimidine phosphoribosyltransferase family.
Cellular localization
- Cytoplasm
Alternative names
HPRT, HPRT1, Hypoxanthine-guanine phosphoribosyltransferase, HGPRT, HGPRTase