HPRT1

The 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.

hypoxanthine phosphoribosyltransferase 1

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.

Adenine metabolic process Source: Ensembl
AMP salvage Source: Ensembl
Central nervous system neuron development Source: Ensembl
Cerebral cortex neuron differentiation Source: Ensembl
Dendrite morphogenesis Source: Ensembl
Dopamine metabolic process Source: Ensembl
GMP catabolic process Source: UniProtKB
GMP salvage Source: MGI
Grooming behavior Source: Ensembl
Guanine salvage Source: UniProtKB
Hypoxanthine metabolic process Source: UniProtKB
Hypoxanthine salvage Source: UniProtKB
IMP metabolic process Source: UniProtKB
IMP salvage Source: GO_Central
Locomotory behavior Source: Ensembl
Lymphocyte proliferation Source: Ensembl
Positive regulation of dopamine metabolic process Source: UniProtKB
Protein homotetramerization Source: UniProtKB
Purine nucleotide biosynthetic process Source: UniProtKB
Purine ribonucleoside salvage Source: UniProtKB
Response to amphetamine Source: Ensembl
Striatum development Source: Ensembl
T cell mediated cytotoxicity Source: Ensembl

Cytoplasm

Lesch-Nyhan syndrome (LNS):
Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.
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.