PRPS1 phosphoribosyl pyrophosphate synthetase 1

Gene ID: 5631, updated on 17-Jun-2024
Gene type: protein coding
Also known as: ARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Arts syndrome MedGen: C0796028OMIM: 301835GeneReviews: Phosphoribosylpyrophosphate Synthetase Deficiency	See labs
Charcot-Marie-Tooth disease X-linked recessive 5 MedGen: C1839566OMIM: 311070GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview, Phosphoribosylpyrophosphate Synthetase Deficiency	See labs
Hearing loss, X-linked 1 MedGen: C1844677OMIM: 304500GeneReviews: Genetic Hearing Loss Overview, Phosphoribosylpyrophosphate Synthetase Deficiency	See labs
Hereditary hearing loss and deafness MedGen: C0236038GeneReviews: Genetic Hearing Loss Overview	See labs
Phosphoribosylpyrophosphate synthetase superactivity MedGen: C1970827OMIM: 300661GeneReviews: Phosphoribosylpyrophosphate Synthetase Superactivity	See labs

Genomic context

Location:: Xq22.3

Sequence:: Chromosome: X; NC_000023.11 (107628510..107651026)

Total number of exons:: 7

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PRPS1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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