The ranbp1 gene encodes a cytoplasmic and nuclear envelope-localized protein that functions as a GTPase-activating protein (GAP) for Ran GTPase, facilitating nucleotide exchange and regulating nucleocy...[+]

The ranbp1 gene encodes a cytoplasmic and nuclear envelope-localized protein that functions as a GTPase-activating protein (GAP) for Ran GTPase, facilitating nucleotide exchange and regulating nucleocytoplasmic transport. It is involved in cell cycle progression, mitotic spindle assembly, and kinetochore-microtubule attachment during mitosis. The protein interacts with the nuclear pore complex and is implicated in sumoylation processes. Expression is observed during oogenesis and early embryogenesis, particularly within the germ plasm and surrounding the mitochondrial cloud in stage I oocytes. [-]

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