DISEASES

Disease-gene associations mined from literature

Literature associating PRPS1L1 and Charcot-Marie-Tooth disease X-linked dominant 6

PRPS1L1 [ENSP00000424595]

Phosphoribosyl pyrophosphate synthetase 1-like 1; Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.

Synonyms:  PRPS1L1,  PRPS1L1p,  hPRPS1L1,  PRPS3,  PRPSL ...

Linkouts:  STRING  Pharos  OMIM