Disease-gene associations mined from literature

Literature associating ARF6 and trichohepatoenteric syndrome 1

ARF6 [ENSP00000298316]

ADP-ribosylation factor 6; GTP-binding protein involved in protein trafficking that regulates endocytic recycling and cytoskeleton remodeling. Required for normal completion of mitotic cytokinesis. Plays a role in the reorganization of the actin cytoskeleton and the formation of stress fibers. May also modulate vesicle budding and uncoating within the Golgi apparatus. Involved in the regulation of dendritic spine development, contributing to the regulation of dendritic branching and filopodia extension. Involved in epithelial polarization (By similarity).Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase; ARF GTPase family

Synonyms:  ARF6,  ARF6p,  hARF6,  P62330,  P62330p ...

Linkouts:  STRING  Pharos  UniProt  OMIM