HELP     Sign In
Search

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.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Recent Recommendation
Memo1-Mediated Tiling of Radial Glial Cells Facilitates Cerebral Cortical Development.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1091R001 
 splice_site_variant 
 c.143+1G>A 
  
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
2
Deletion-Duplication
 37
 
2
N/A
 2
 
2
Duplication
 1
 
2
Duplication
 1
 

No Animal Model Data Available

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.