DISEASES

Disease-gene associations mined from literature

Literature associating RAB23 and umbilical hernia

RAB23 [ENSP00000417610]

RAB23, 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 set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes.

Synonyms:  RAB23,  RAB23p,  hRAB23,  A0A024RD41,  Q9ULC3 ...

Linkouts:  STRING  Pharos  UniProt