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PRPS1 - phosphoribosyl pyrophosphate synthetase 1
- Synonym(s) : CMTX5, DFNX1, PRS I, ribose-phosphate diphosphokinase 1
- Previous symbols and names : DFN2, deafness, X-linked 2, perceptive, congenital
- Type : gene with protein product
- Chromosomal location : Xq22.3
- OMIM: 311850
- HGNC: 9462
- UniProtKB: P60891
- Genatlas: PRPS1
- GenCC: PRPS1
- Ensembl: ENSG00000147224
- IUPHAR-DB: -
- Reactome: P60891
- LOVD: PRPS1
Diseases list
- Disease-causing germline mutation(s) in X-linked Charcot-Marie-Tooth disease type 5
ORPHA:99014 
- Disease-causing germline mutation(s) in X-linked non-syndromic sensorineural deafness type DFN
ORPHA:90625 - Disease-causing germline mutation(s) (loss of function) in Lethal ataxia with deafness and optic atrophy
ORPHA:1187 - Disease-causing germline mutation(s) (loss of function) in Mild phosphoribosylpyrophosphate synthetase superactivity
ORPHA:411536 - Disease-causing germline mutation(s) (loss of function) in X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
ORPHA:423479 - Disease-causing germline mutation(s) (gain of function) in Severe phosphoribosylpyrophosphate synthetase superactivity
ORPHA:411543
: AssessedAdditional information
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