DISEASES

Disease-gene associations mined from literature

Literature associating SBF2 and Charcot-Marie-Tooth disease type 4B1

SBF2 [ENSP00000256190]

Myotubularin-related protein 13; Guanine nucleotide exchange factor (GEF) which may activate 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:  SBF2,  SBF2p,  hSBF2,  H0YDZ1,  Q86WG5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM