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Reviewed September 2009
What is the official name of the PRPS1 gene?
The official name of this gene is “phosphoribosyl pyrophosphate synthetase 1.”
PRPS1 is the gene's official symbol. The PRPS1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PRPS1 gene?
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.
How are changes in the PRPS1 gene related to health conditions?
Where is the PRPS1 gene located?
Cytogenetic Location: Xq22.3
Molecular Location on the X chromosome: base pairs 107,628,423 to 107,651,025
The PRPS1 gene is located on the long (q) arm of the X chromosome at position 22.3.
More precisely, the PRPS1 gene is located from base pair 107,628,423 to base pair 107,651,025 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PRPS1?
You and your healthcare professional may find the following resources about PRPS1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the PRPS1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PRPS1?
acids ; arthritis ; ataxia ; ATP ; cell ; developmental delay ; DNA ; enzyme ; gene ; gout ; GTP ; hypotonia ; immune system ; kidney ; molecule ; muscle tone ; nervous system ; neurological ; neuropathy ; peripheral ; peripheral neuropathy ; protein ; purines ; pyrimidines ; RNA ; sensorineural ; sensorineural hearing loss ; syndrome ; uric acid
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.