Skip to content
Use your HSA or FSA funds

Gene

PRPS1

phosphoribosyl pyrophosphate synthetase 1

Summary

Cytogenetic location
Xq22.3
Coordinates
Chromosome X: 107,628,510–107,651,026 (GRCh38)
Exons
7 exons across 22.5 kb
Protein
318 amino acids
Inheritance
X-linked recessive
Also known as
CMTX5, DFNX1, PRS-I, PPRibP
Previous symbols
DFN2
MANE Select transcript
ENST00000372435.10NM_002764.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Purine & Pyrimidine Metabolism Disorders

    • Phosphoribosylpyrophosphate Synthetase SuperactivityX-linked recessive

      Caused by variants in PRPS1, which increase uric acid production and can cause early gout and kidney stones, sometimes with hearing loss.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows allopurinol treatment to control uric acid.

Broader groupings

  • Charcot-Marie-Tooth Disease

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

  • Hearing Loss and Deafness

    • Nonsyndromic Genetic Hearing Loss

      One of 97 genes linked to it

      Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

Inheritance

X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How PRPS1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where PRPS1 sits. PRPS1 and 10 genes near it on chromosome X, from 107,139,768 to 108,139,767.Chromosome XXq22.3p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28107.2 Mb107.4 Mb107.6 Mb107.8 Mb108 MbNUP62CL: 107,122,726–107,245,108, reverse strandNUP62CLDNAAF6: 107,206,606–107,244,247, forward strandDNAAF6FRMPD3: 107,449,652–107,605,255, forward strandFRMPD3PRPS1: 107,628,510–107,651,026, forward strandPRPS1TSC22D3: 107,713,221–107,777,342, reverse strandTSC22D3NCBP2L: 107,774,899–107,795,829, forward strandNCBP2LMID2: 107,825,730–107,931,637, forward strandMID2TEX13B: 107,980,864–107,982,370, reverse strandTEX13BVSIG1: 108,044,968–108,079,184, forward strandVSIG1PSMD10: 108,084,202–108,091,637, reverse strandPSMD10ATG4A: 108,091,666–108,155,969, forward strandATG4ADiagram of PRPS1: 7 exons on the forward strand of chromosome XExon 2: 2 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 3 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 1: 107,628,510–107,628,750, 241 basesExon 2: 107,639,295–107,639,478, 184 basesExon 3: 107,640,902–107,641,000, 99 basesExon 4: 107,642,366–107,642,490, 125 basesExon 5: 107,645,177–107,645,350, 174 basesExon 6: 107,647,606–107,647,765, 160 basesExon 7: 107,649,940–107,651,026, 1,087 bases12345675′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.1 kb of the gene's 22.5 kb; 957 of those bases code for the protein.

How a genome test reads PRPS1

17

positions in PRPS1 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (5.9%) falls in a region short reads find hard.

  • Segmental duplications (1 site)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 22.5 kb of PRPS1, introns included, not only the 2.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PRPS1 gene: phosphoribosyl pyrophosphate synthetase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/prps1

Vancouver

Dante Labs. PRPS1 gene: phosphoribosyl pyrophosphate synthetase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/prps1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test