Relevance to Autism

De novo missense variants in the DENR gene were identified in two unrelated ASD probands (Neale et al., 2012; Haas et al., 2016); additional functional characterization of these variants in Haas et al., 2016 demonstrated effects on migration, dendritic branching, and dendritic spine properties of cortical neurons.

Molecular Function

This gene encodes a protein that is involved in mRNA translation initiation by promoting the recruitment of aminoacetyled initiator tRNA to P site of 40S ribosomes. Haas et al., 2016 demonstrated that DENR controls radial migration in the mouse brain through its binding partner MCTS1.

External Links

References