RAB11A is a GTPase of the Ras superfamily. It is abundant in nervous tissue and plays crucial roles in cell trafficking. Jenkins et al. performed in vitro studies for specific RAB11A variants (p.K24R, p.R82C, p.S154L) and showed decreased RAB11A activation, stability and/or function. It has not yet been determined if RAB11A variants cause dominant gain-of-function or dominant-negative (DN) effects. However, since low GTP-affinity can lead to guanine nucleotide exchange factor (GEF) sequestration, Jenkins et al.’s studies might suggest that the variants act in a DN fashion.
RAB11A