This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript varian... See more...

Aliases for PRPS1 Gene

Aliases for PRPS1 Gene

  • Phosphoribosyl Pyrophosphate Synthetase 1 2 3 5
  • Deafness, X-Linked 2, Perceptive, Congenital 2 3
  • Phosphoribosyl Pyrophosphate Synthase I 3 4
  • Ribose-Phosphate Pyrophosphokinase 1 3 4
  • Ribose-Phosphate Diphosphokinase 1 2 3
  • EC 4 50
  • PPRibP 3 4
  • CMTX5 2 3
  • DFNX1 2 3
  • PRS-I 3 4
  • DJ1070B1.2 (Phosphoribosyl Pyrophosphate Synthetase 1) 3
  • Deafness 2, Perceptive, Congenital 3
  • PRS I 2
  • PRPS1 5
  • ARTS 3
  • DFN2 3
  • PRSI 3

External Ids for PRPS1 Gene

Previous HGNC Symbols for PRPS1 Gene

  • DFN2

Previous GeneCards Identifiers for PRPS1 Gene

  • GC0XP102183
  • GC0XP103790
  • GC0XP104904
  • GC0XP105643
  • GC0XP106677
  • GC0XP106871
  • GC0XP096496

Summaries for PRPS1 Gene

Entrez Gene Summary for PRPS1 Gene

  • This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

CIViC Summary for PRPS1 Gene

GeneCards Summary for PRPS1 Gene

PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1) is a Protein Coding gene. Diseases associated with PRPS1 include Phosphoribosylpyrophosphate Synthetase Superactivity and Arts Syndrome. Among its related pathways are Nucleotide Metabolism and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is PRPS1L1.

UniProtKB/Swiss-Prot Summary for PRPS1 Gene

  • Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRPS1 Gene

Genomics for PRPS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PRPS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRPS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRPS1

Top Transcription factor binding sites by QIAGEN in the PRPS1 gene promoter:
  • FOXD1
  • FOXO3b
  • FOXO4
  • GR
  • GR-alpha
  • Nkx2-5
  • p53
  • POU2F1
  • POU2F1a
  • Sox5

Genomic Locations for PRPS1 Gene

Latest Assembly
23,566 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
22,517 bases
Plus strand

(GRCh37/hg19 by Ensembl)
22,520 bases
Plus strand

Genomic View for PRPS1 Gene

Genes around PRPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPS1 Gene

Proteins for PRPS1 Gene

  • Protein details for PRPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ribose-phosphate pyrophosphokinase 1
    Protein Accession:
    Secondary Accessions:
    • B1ALA8
    • B2R6T7
    • B4DNL6
    • D3DUX6
    • P09329

    Protein attributes for PRPS1 Gene

    318 amino acids
    Molecular mass:
    34834 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer. The active form is probably a hexamer composed of 3 homodimers.

    Three dimensional structures from OCA and Proteopedia for PRPS1 Gene

    Alternative splice isoforms for PRPS1 Gene


neXtProt entry for PRPS1 Gene

Selected DME Specific Peptides for PRPS1 Gene


Post-translational modifications for PRPS1 Gene

  • Ubiquitination at Lys176 and Lys235
  • Modification sites at PhosphoSitePlus

Domains & Families for PRPS1 Gene

Gene Families for PRPS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PRPS1 Gene

  • Phosphoribosyl pyrophosphate synthetase

Suggested Antigen Peptide Sequences for PRPS1 Gene

GenScript: Design optimal peptide antigens:
  • Ribose-phosphate pyrophosphokinase (B4DNL6_HUMAN)
  • Phosphoribosyl pyrophosphate synthase I (PRPS1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ribose-phosphate pyrophosphokinase family.
  • Belongs to the ribose-phosphate pyrophosphokinase family.
genes like me logo Genes that share domains with PRPS1: view

Function for PRPS1 Gene

Molecular function for PRPS1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + D-ribose 5-phosphate = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + H(+); Xref=Rhea:RHEA:15609, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:58017, ChEBI:CHEBI:78346, ChEBI:CHEBI:456215; EC=;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by magnesium and inorganic phosphate.
GENATLAS Biochemistry:
phosphoribosyl pyrophosphate synthetase 1

Enzyme Numbers (IUBMB) for PRPS1 Gene

Gene Ontology (GO) - Molecular Function for PRPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA --
GO:0004749 ribose phosphate diphosphokinase activity IEA,IMP 12847698
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IBA,IDA 16939420
genes like me logo Genes that share ontologies with PRPS1: view
genes like me logo Genes that share phenotypes with PRPS1: view

Human Phenotype Ontology for PRPS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRPS1 Gene

MGI Knock Outs for PRPS1:
  • Prps1 Prps1<tm1b(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for PRPS1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRPS1

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PRPS1 Gene

Localization for PRPS1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRPS1 gene
Compartment Confidence
cytosol 5
extracellular 2
mitochondrion 2
nucleus 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PRPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002189 ribose phosphate diphosphokinase complex IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PRPS1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PRPS1 Gene

Pathways & Interactions for PRPS1 Gene

genes like me logo Genes that share pathways with PRPS1: view

Pathways by source for PRPS1 Gene

1 BioSystems pathway for PRPS1 Gene
1 PharmGKB pathway for PRPS1 Gene
2 Qiagen pathways for PRPS1 Gene
  • Cellular Apoptosis Pathway
  • Mitochondrial Apoptosis
1 GeneTex pathway for PRPS1 Gene

UniProtKB/Swiss-Prot P60891-PRPS1_HUMAN

  • Pathway: Metabolic intermediate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate from D-ribose 5-phosphate (route I): step 1/1.

Gene Ontology (GO) - Biological Process for PRPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process TAS --
GO:0006144 purine nucleobase metabolic process IMP 8253776
GO:0006164 purine nucleotide biosynthetic process IBA,IMP 12847698
GO:0006221 pyrimidine nucleotide biosynthetic process NAS 17701896
GO:0007399 nervous system development IMP 8253776
genes like me logo Genes that share ontologies with PRPS1: view

No data available for SIGNOR curated interactions for PRPS1 Gene

Drugs & Compounds for PRPS1 Gene

(6) Drugs for PRPS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(7) Additional Compounds for PRPS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Ribose 5-phosphate
  • 5-O-Phosphono-alpha-D-ribofuranose
  • 5-O-Phosphono-a-D-ribofuranose
  • 5-O-Phosphono-α-D-ribofuranose
  • a-D-Ribose 5-phosphate
  • a-D-Ribose 5-phosphoric acid
D-Ribulose 5-phosphate
  • D-Erythro-pent-2-ulose 5-(dihydrogen phosphate)
  • D-Erythro-pent-2-ulose 5-(dihydrogen phosphoric acid)
  • D-Ribulose 5-phosphoric acid
  • Ribulose 5-phosphate
  • Ribulose 5-phosphate, (D)-isomer
Phosphoribosyl pyrophosphate
  • 5-Phospho-alpha-D-ribose 1-diphosphate
  • 5-Phosphoribosyl 1-pyrophosphate
  • 5-Phosphoribosyl diphosphate
  • alpha-D-Ribofuranose 5-(dihydrogen phosphate) 1-(trihydrogen diphosphate)
  • alpha-Phosphoribosylpyrophosphoric acid
  • 1-(5-Phospho-D-ribosyl)-ATP
  • N1-(5-Phospho-D-ribosyl)-ATP
  • Phosphoribosyl-ATP
  • 1-(5-Phospho-beta-D-ribosyl)-ATP
  • 1-(5-Phospho-b-D-ribosyl)-ATP
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
genes like me logo Genes that share compounds with PRPS1: view

Transcripts for PRPS1 Gene

mRNA/cDNA for PRPS1 Gene

9 NCBI additional mRNA sequence :
25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRPS1

Alternative Splicing Database (ASD) splice patterns (SP) for PRPS1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - -
SP2: - - -
SP3: - - -
SP4: -

Relevant External Links for PRPS1 Gene

GeneLoc Exon Structure for

Expression for PRPS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRPS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PRPS1 Gene

This gene is overexpressed in Lymph node (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRPS1 Gene

Protein tissue co-expression partners for PRPS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRPS1

SOURCE GeneReport for Unigene cluster for PRPS1 Gene:


Evidence on tissue expression from TISSUES for PRPS1 Gene

  • Nervous system(5)
  • Blood(4.4)
  • Kidney(3.5)
  • Liver(2.6)
  • Lung(2.3)
  • Skin(2.2)
  • Intestine(2.1)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRPS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • larynx
  • lip
  • mouth
  • neck
  • pharynx
  • salivary gland
  • aorta
  • esophagus
  • lung
  • trachea
  • kidney
  • stomach
  • ureter
  • urinary bladder
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • knee
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • bone marrow
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with PRPS1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PRPS1 Gene

Orthologs for PRPS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PRPS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PRPS1 29 30
  • 100 (n)
(Mus musculus)
Mammalia Prps1l3 30
  • 100 (a)
Prps1 29 16
  • 92.45 (n)
(Monodelphis domestica)
Mammalia -- 30
  • 95 (a)
(Canis familiaris)
Mammalia PRPS1 29
  • 93.5 (n)
(Bos Taurus)
Mammalia PRPS1 29 30
  • 93.29 (n)
(Rattus norvegicus)
Mammalia Prps1 29
  • 91.93 (n)
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 25 (a)
(Gallus gallus)
Aves -- 30
  • 95 (a)
PRPS1 29
  • 85.01 (n)
(Anolis carolinensis)
Reptilia -- 30
  • 84 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia MGC75987 29
(Danio rerio)
Actinopterygii prps1a 30
  • 96 (a)
prps1b 29 30
  • 81.24 (n)
Dr.2896 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004890 29
  • 74.24 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG6767 29 30 31
  • 73.82 (n)
(Caenorhabditis elegans)
Secernentea R151.2a 31
  • 81 (a)
R151.2b 31
  • 81 (a)
R151.2c 31
  • 80 (a)
R151.2 30
  • 58 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRS4 30 32
  • 61 (a)
PRS2 30
  • 61 (a)
PRS3 30
  • 60 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PRS2 29
  • 52.86 (n)
(Oryza sativa)
Liliopsida Os02g0127700 29
  • 53.49 (n)
Os.23170 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2559 30
  • 87 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2065 29
Species where no ortholog for PRPS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PRPS1 Gene

Gene Tree for PRPS1 (if available)
Gene Tree for PRPS1 (if available)
Evolutionary constrained regions (ECRs) for PRPS1: view image
Alliance of Genome Resources:
Additional Orthologs for PRPS1

Paralogs for PRPS1 Gene

Paralogs for PRPS1 Gene

(4) SIMAP similar genes for PRPS1 Gene using alignment to 4 proteins:

  • B4DNL6_HUMAN Pseudogenes for PRPS1 Gene

genes like me logo Genes that share paralogs with PRPS1: view

Variants for PRPS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRPS1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1001412 Uncertain Significance: Charcot-Marie-Tooth Neuropathy X 107,628,697(+) G/A
NM_002764.4(PRPS1):c.69G>A (p.Leu23=)
1032085 Uncertain Significance: Arts syndrome 107,647,743(+) T/G
NM_002764.4(PRPS1):c.842T>G (p.Met281Arg)
844486 Uncertain Significance: Charcot-Marie-Tooth Neuropathy X 107,645,256(+) C/T
NM_002764.4(PRPS1):c.610C>T (p.Arg204Cys)
853229 Uncertain Significance: Charcot-Marie-Tooth Neuropathy X 107,647,633(+) T/G
NM_002764.4(PRPS1):c.732T>G (p.Val244=)
866872 Likely Pathogenic: Retinal dystrophy 107,647,728(+) C/T
NM_002764.4(PRPS1):c.827C>T (p.Pro276Leu)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PRPS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for PRPS1 Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRPS1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PRPS1 Gene

Disorders for PRPS1 Gene

MalaCards: The human disease database

(43) MalaCards diseases for PRPS1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search PRPS1 in MalaCards View complete list of genes associated with diseases


  • Note=Phosphoribosyl pyrophosphate synthetase I deficiency is a rare condition caused by mutations in PRPS1 that lead to variable disease phenotypes including optic atrophy, retinitis pigmentosa, ataxia, peripheral neuropathy and hearing loss. {ECO:0000269 PubMed:25491489}.
  • Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]: Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. {ECO:0000269 PubMed:7593598, ECO:0000269 Ref.12}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. {ECO:0000269 PubMed:17701900}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • ARTS syndrome (ARTS) [MIM:301835]: A disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death. {ECO:0000269 PubMed:17701896}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Deafness, X-linked, 1 (DFNX1) [MIM:304500]: A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. {ECO:0000269 PubMed:20021999}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=A mutation in PRPS1 has been found in a patient with a phenotype that bridges that of PRSPS1 superactivity and ARTS syndrome with uric acid overproduction without gout but with recurrent infections, sensorineural hearing loss and motor neuropathy. The intermediate phenotype may be because Leu-142 variant affects both allosteric sites that are involved in inhibition of PRPS1 and the ATP-binding site, which suggests that this substitution can result both in a gain-of-function and loss-of-function of PRPP synthetase. {ECO:0000269 PubMed:22246954}.

Genatlas disease for PRPS1 Gene

gout,with/without neurodevelopmental abnormalities (PRPS over expression)

Additional Disease Information for PRPS1

genes like me logo Genes that share disorders with PRPS1: view

Publications for PRPS1 Gene

  1. Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. (PMID: 20021999) Liu X … Yuan H (American journal of human genetics 2010) 2 3 4 72
  2. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). (PMID: 17701900) Kim HJ … Kim JW (American journal of human genetics 2007) 3 4 22 72
  3. Arts syndrome is caused by loss-of-function mutations in PRPS1. (PMID: 17701896) de Brouwer AP … van Bokhoven H (American journal of human genetics 2007) 3 4 22 72
  4. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. (PMID: 25491489) Almoguera B … Ayuso C (Orphanet journal of rare diseases 2014) 3 4 72
  5. The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. (PMID: 7593598) Becker MA … Switzer RL (The Journal of clinical investigation 1995) 3 4 72

Products for PRPS1 Gene

Sources for PRPS1 Gene