DISEASES

Disease-gene associations mined from literature

Literature associating PRPS1 and Charcot-Marie-Tooth disease X-linked dominant 6

PRPS1 [ENSP00000361512]

Phosphoribosyl pyrophosphate synthetase 1; Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis; Belongs to the ribose-phosphate pyrophosphokinase family.

Synonyms:  PRPS1,  PRPS1p,  hPRPS1,  B1ALA7,  B1ALA9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM