DISEASES

Disease-gene associations mined from literature

Literature associating PRPS1L1 and Brown-Vialetto-Van Laere syndrome

PRPS1L1 [ENSP00000424595]

Ribose-phosphate pyrophosphokinase 3; Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.

Synonyms:  PRPS1L1,  PRPS1L1p,  hPRPS1L1,  A0A0B4J207,  P21108 ...

Linkouts:  STRING  Pharos  UniProt  OMIM