DISEASES

Disease-gene associations mined from literature

Literature associating RAB27B and piebaldism

RAB27B [ENSP00000262094]

Ras-related protein Rab-27B; Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion . Plays a role in NTRK2/TRKB axonal anterograde transport by facilitating the association of NTRK2/TRKB with KLC1 . May be involved in targeting uroplakins to urothelial apical membranes (By similarity).

Synonyms:  RAB27B,  RAB27Bp,  hRAB27B,  K7EJ38,  K7ES41 ...

Linkouts:  STRING  Pharos  UniProt  OMIM