Literature associating RAP1B and Kabuki syndrome
RAP1B, member of RAS oncogene family; GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarizing activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localization of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction. Plays a role in the establishment of basal endothelial barrier function; Belongs to the small GTPase superfamily. Ras family.
Synonyms: RAP1B, RAP1Bp, hRAP1B, A0A024RB87, B7ZB78 ...