phosphoribosyl pyrophosphate synthetase 1

Gene information

• Identity
  HGNC:9462
• Gene
  PRPS1
• Long gene name
  phosphoribosyl pyrophosphate synthetase 1
• Synonyms gene
  • DFN2
• Synonyms gene name
  • deafness, X-linked 2, perceptive, congenital
• Synonyms
  • CMTX5
  • DFNX1
• Synonyms name
  • PRS I
  • ribose-phosphate diphosphokinase 1
• GenBank acession
  • X15331
• Locus
  Xq22.3
• Discovery year
  2001-06-22
• Entrez gene record
  5631
• Pubmed identfication
  • 1962753
  • 20021999
• VEGA ID
  OTTHUMG00000022167
• Locus Specific Databases
  • Global Variome shared LOVD
  • LRG_264

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