Meyahealth
HomeGeneticsGenePRPS1 gene
Back to Gene
PRPS1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PRPS1 gene

The PRPS1 gene provides instructions for making an enzyme that is essential for the production and recycling of nucleotides, which are the building blocks of DNA and RNA.

Normal Function

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. 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.

Health Conditions Related to Genetic Changes

Arts syndrome

At least three PRPS1 gene mutations have been identified in people with Arts syndrome, a disorder that causes serious neurological problems in males. The mutations are believed to result in the production of an unstable enzyme with little or no activity. The lack of functional PRPP synthetase 1 enzyme disrupts both the manufacture and recycling of purines. The disruption of purine production may impair energy storage and transport in cells, which may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system.

Phosphoribosylpyrophosphate synthetase superactivity

At least seven mutations in the PRPS1 gene that cause a severe form of phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) have been identified. These mutations result in a poorly regulated, overactive enzyme. In both the severe and milder forms of the disorder, excessive amounts of purines are generated. Under these conditions, uric acid, a waste product of purine breakdown, accumulates in the body, which can cause gout and kidney or bladder stones. People with the severe form of PRS superactivity have additional symptoms including sensorineural hearing loss, weak muscle tone (hypotonia), impaired muscle coordination (ataxia), and developmental delay.

Charcot-Marie-Tooth disease

MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease.

Nonsyndromic hearing loss

MedlinePlus Genetics provides information about Nonsyndromic hearing loss.

Other Names for This Gene

  • ARTS
  • CMTX5
  • dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)
  • KIAA0967
  • PPRibP
  • PRPS1_HUMAN
  • PRSI

Frequently Asked Questions

rts syndrome is an X-linked recessive disorder. This means that males who inherit the mutated PRPS1 gene on their X chromosome will be affected, while females who inherit one copy are typically carriers but may have mild symptoms or be asymptomatic. Female carriers have a 50% chance of passing the mutation to a son, who would be affected, and a 50% chance of passing it to a daughter, who would be a carrier. Genetic counseling and prenatal or preimplantation genetic testing are recommended for families with a history of the condition.
Differentiation is primarily based on the severity of symptoms and genetic testing. Arts syndrome presents with severe neurological impairment, developmental delay, and often early infantile death, resulting from a complete or near-complete loss of enzyme activity. In contrast, PRPS1 superactivity disorders (like X-linked dominant deafness or gout) are caused by mutations that increase enzyme activity, leading to overproduction of uric acid and specific hearing loss without the profound neurological devastation seen in Arts syndrome. Genetic sequencing is essential to identify whether the mutation leads to enzyme deficiency or superactivity.
Mutations that cause PRPS1 superactivity increase the production of phosphoribosyl pyrophosphate (PRPP), which drives the synthesis of purines. The breakdown of these excess purines results in high levels of uric acid, which can crystallize in joints and kidneys, causing gout. Management involves strict dietary modifications to limit high-purine foods, maintaining adequate hydration to flush uric acid from the kidneys, and potentially using medications like allopurinol to inhibit uric acid production. Patients must monitor for kidney stones and joint inflammation regularly.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ