Literature associating SBF1 and Charcot-Marie-Tooth disease
Myotubularin-related protein 5; Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. According to PubMed:20937701, 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; DENN/MADD domain containing
Synonyms: SBF1, SBF1p, hSBF1, A0A024R4Z9, DKFZP761D0422 ...