Disease-gene associations mined from literature

Literature associating RAB8B and retinitis pigmentosa 39

RAB8B [ENSP00000312734]

RAB8B, member RAS oncogene family; 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 sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may be involved in polarized vesicular trafficking and neurotransmitter release. May participate in cell junction dynamics in Sertoli cells (By similarity); RAB, member RAS oncogene GTPases

Synonyms:  RAB8B,  RAB8Bp,  hRAB8B,  F5GY21,  H0YL94 ...

Linkouts:  STRING  Pharos  UniProt  OMIM