The arhgef1 gene encodes a guanine nucleotide exchange factor (GEF) protein that activates Rho GTPases by facilitating the exchange of GDP for GTP. This protein is involved in regulating actin cytoskel...[+]

The arhgef1 gene encodes a guanine nucleotide exchange factor (GEF) protein that activates Rho GTPases by facilitating the exchange of GDP for GTP. This protein is involved in regulating actin cytoskeleton dynamics and cell migration during embryonic development. It localizes to the cytoplasm and membrane regions where it transduces extracellular signals into intracellular responses, influencing processes such as convergent extension movements. Expression is detected in various tissues including the neural tube, somites, and notochord. [-]

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