The gene arfgap1 encodes an ADP-ribosylation factor GTPase-activating protein, which functions as a regulatory molecule in intracellular trafficking by hydrolyzing GTP bound to ARF proteins, thereby in...[+]

The gene arfgap1 encodes an ADP-ribosylation factor GTPase-activating protein, which functions as a regulatory molecule in intracellular trafficking by hydrolyzing GTP bound to ARF proteins, thereby inactivating them and promoting the dissociation of coat proteins from vesicles. In early development, its mRNA is expressed maternally and is localized to the animal hemisphere; expression continues throughout embryogenesis, particularly in the nervous system including the brain, neural tube, spinal cord, eye, and cranial ganglia, as well as in the branchial arches, otic vesicle, and pronephros. The protein is predicted to localize to the cytoplasm and golgi apparatus. [-]

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