Aliases: DKFZp434H018, GAF1, KIAA0857, RIP11, pp75
Chromosome No: 2
Chromosome Band: 2p13.2
Genetic Category: Rare single gene variant--Functional
ASD Reports: 6
Recent Reports: 2
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
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Relevance to Autism
A de novo translocation identified in a male patient with PDD-NOS was demonstrated to directly interrupt the RAB11FIP5 gene in Roohi et al., 2008. Missense variants in this gene have also been identified in individuals with ASD in two studies (Matsunami et al., 2014; Yuen et al., 2016). Knockout of Rab11fip5 was shown to abolish hippocampal long-term depression in acute slices and cultured neurons, while Rab11Fip5 knockout mice were shown to display enhanced contextual fear extinction, in Bacaj et al., 2015.
Molecular Function
Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. Involved in insulin granule exocytosis. May regulate V-ATPase intracellular transport in response to extracellular acidosis.
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