DISEASES

Disease-gene associations mined from literature

Literature associating PRPSAP1 and Bardet-Biedl syndrome 7

PRPSAP1 [ENSP00000414624]

39 kDa phosphoribosypyrophosphate synthase-associated protein; Seems to play a negative regulatory role in 5- phosphoribose 1-diphosphate synthesis.

Synonyms:  PRPSAP1,  PRPSAP1p,  hPRPSAP1,  A0A024R8M4,  B4DP31 ...

Linkouts:  STRING  Pharos  UniProt  OMIM