DISEASES

Disease-gene associations mined from literature

Literature associating SBF1 and Charcot-Marie-Tooth disease type 4

SBF1 [ENSP00000370196]

Myotubularin-related protein 5; Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location . May function as a guanine nucleotide exchange factor (GEF) activating RAB28 . Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form . Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts . ; Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily.

Synonyms:  SBF1,  SBF1p,  hSBF1,  H0Y5W8,  O95248 ...

Linkouts:  STRING  Pharos  UniProt  OMIM