Target

Gene symbol :  
Prps1
NCBI gene ID :  
19139
Gene full name :  
Phosphoribosyl pyrophosphate synthetase 1
Synonym :  
DFNX1, ARTS, Prs1

Protein function

Protein name :  
PRPS1
Catalyzes synthesis of PRPP in purine/nucleotide biosynthesis

Expected phenotype

Altered purine metabolism, neurological defects

Human disease relevance

Linked to Arts syndrome, gout, Charcot–Marie–Tooth, deafness

Model applications

Models for metabolic and neuropathic disorders

Keywords:

Purine metabolism, Enzyme, Neuropathy

Availability & Delivery:

  • Cryo-recovery using in-house SOPF facilities
  • Worldwide delivery by professional breeders

Prps1

conditional Knockout mouse

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