Gene Symbol Report 
PRPS1
| Approved Symbol |
PRPS1 |
|---|---|
| Approved Name |
phosphoribosyl pyrophosphate synthetase 1 |
| HGNC ID |
HGNC:9462 |
| Previous Symbols & Names |
"deafness, X-linked 2, perceptive, congenital", DFN2 |
| Synonyms |
CMTX5, DFNX1, "PRS I", "ribose-phosphate diphosphokinase 1" |
| Locus Type |
gene with protein product |
| Chromosomal Location |
Xq22.3 |
| SPECIALIST DATABASE |
EC:2.7.6.1 C |
|
|---|---|---|
| HOMOLOGS |
MGI:97775 C Mouse Symbol: Prps1 RGD:61955 D Rat Symbol: Prps1 HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:X15331 EMBL-Bank DDBJ C RefSeq:NM_001204402 D CCDS:CCDS14529.1 C Vega:OTTHUMG00000022167 C |
|
| GENE RESOURCES |
Entrez Gene:5631 C Ensembl:ENSG00000147224 C UCSC:uc004ene.4 D Vega:OTTHUMG00000022167 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:P60891 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LSDB:Mental Retardation database C LRG:LRG_264 C Genetic Testing Registry C |
|
| REFERENCES |
PubMed Europe PMC C |
|
| OTHER DATABASE LINKS |
GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
