DISEASES

Disease-gene associations mined from literature

Literature associating RAB30 and B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1

RAB30 [ENSP00000435189]

Ras-related protein Rab-30; 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 (By similarity). Required for maintaining the structural integrity of the Golgi apparatus, possibly by mediating interactions with cytoplasmic scaffolding proteins.

Synonyms:  RAB30,  RAB30p,  hRAB30,  A8K5R1,  E9PI18 ...

Linkouts:  STRING  Pharos  UniProt