DISEASES

Disease-gene associations mined from literature

Literature associating SBF1 and Charcot-Marie-Tooth disease type 4B1

SBF1 [ENSP00000370196]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM