The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme helps produce a molecule called phosphoribosyl pyrophosphate (PRPP). PRPP is involved in making purine and pyrimidine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.
Purines and pyrimidines may be manufactured from smaller molecules, or they can be recycled from the breakdown of DNA and RNA in a series of reactions called the salvage pathway. Manufacturing purines and pyrimidines uses much more energy and takes more time than recycling them, which makes recycling these molecules more efficient. The salvage pathway ensures that cells have a plentiful supply of purines and pyrimidines.
PRPP synthetase 1 and PRPP are involved in the manufacture of new purines and pyrimidines, and are also essential for the purine salvage pathway.
Other Names
ARTS; CMTX5; dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1); KIAA0967; PPRibP; PRPS1_HUMAN; PRSI
Related Genetics Topics
- Charcot-Marie-Tooth disease — MedlinePlus Genetics
- Nonsyndromic hearing loss — MedlinePlus Genetics
- Arts syndrome — MedlinePlus Genetics
- Phosphoribosylpyrophosphate synthetase superactivity — MedlinePlus Genetics
Identifiers
- NCBI Gene: 5631
- OMIM: 311850
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
