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PRPS1

Gene

phosphoribosyl pyrophosphate synthetase 1

HGNCHGNC:9462EnsemblENSG00000147224NCBI Gene5631
Locus: gene with protein productLocation: Xq22.3

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asDFN2 · CMTX5 · DFNX1 · PRS-I · PPRibP
View full nomenclature history (8)
Previous symbolsDFN2
Alias symbolsCMTX5, DFNX1, PRS-I, PPRibP
Previous namesdeafness, X-linked 2, perceptive, congenital
Alias namesPRS I, ribose-phosphate diphosphokinase 1

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Charcot-Marie-Tooth Disease
Retinal Dystrophies

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-03-15.
Open TargetsGene–disease associations from the Open Targets Platform.