The rundc3a gene encodes a RUN domain-containing protein which functions as a GTPase-activating protein (GAP) for Rab family small GTPases, particularly Rab1 and Rab35. This protein is localized to rec...[+]

The rundc3a gene encodes a RUN domain-containing protein which functions as a GTPase-activating protein (GAP) for Rab family small GTPases, particularly Rab1 and Rab35. This protein is localized to recycling endosomes and the nucleus in early embryos. It regulates vesicle trafficking during embryogenesis, impacting cadherin turnover at adherens junctions, which is necessary for proper gastrulation movements including epiboly and convergent extension. Its function is associated with tissues including the epidermis, mesoderm, and neural tissues. It also plays a role in establishing left-right asymmetry. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD