DISEASES

Disease-gene associations mined from literature

Literature associating PRPS2 and Charcot-Marie-Tooth disease X-linked dominant 6

PRPS2 [ENSP00000381504]

Phosphoribosyl pyrophosphate synthetase 2; Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis; Belongs to the ribose-phosphate pyrophosphokinase family.

Synonyms:  PRPS2,  PRPS2p,  hPRPS2,  A6NMS2,  D3YTJ7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM