DISEASES

Disease-gene associations mined from literature

Literature on RAB12

RAB12 [ENSP00000331748]

Ras-related protein Rab-12; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may play a role in protein transport from recycling endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor. Involved in autophagy (By similarity).

Synonyms:  RAB12,  RAB12p,  hRAB12,  A0A3B3ITT1,  Q6IQ22 ...

Linkouts:  STRING  Pharos  UniProt