UPRT Chromosome X
Uracil phosphoribosyltransferase homolog
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What This Gene Does
This gene encodes uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and 5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of nucleotide metabolism, specifically the pyrimidine salvage pathway. The enzyme localizes to the nucleus and cytoplasm. The protein is a potential target for rational design of drugs to treat parasitic infections and cancer. [provided by RefSeq, Nov 2009]
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144630001 | Health Risk | Conflicting classifications of pathogenicity | — |