Aliases: C2orf4, CGI-27, MEMO, NS5ATP7
Chromosome No: 2
Chromosome Band: 2p22.3
Genetic Category: Rare single gene variant-Functional
ASD Reports: 2
Recent Reports: 1
Annotated variants: 1
Associated CNVs: 4
Evidence score: 2
Associated Disorders: |
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Relevance to Autism
Nakagawa et al., 2019 demonstrated that deletion or knockdown of the Memo1 gene in mice resulted in hyperbranching of radial glial cell (RGC) basal processes and disrupted RGC tiling, which in turn resulted in aberrant radial unit assembly and neuronal layering. Furthermore, the authors showed that MEMO1 containing an ASD-associated splice-site variant (originally identified in Iossifov et al., 2014) failed to rescue RG tiling defects in Memo1 conditional knockout mice compared to wild-type MEMO1.
Molecular Function
May control cell migration by relaying extracellular chemotactic signals to the microtubule cytoskeleton. Mediator of ERBB2 signaling. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization.