Relevance to Autism

A de novo potentially damaging missense variant in the NCOR1 gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2012); a de novo splice-site variant and paternally-inherited potentially damaging missense variant in this gene were identified in ASD probands from the Autism Clinical and Genetic Resources in China (ACGC) cohort (Wang et al., 2016). Interaction of the NCoR/SMRT co-repressor with MECP2 is abolished by mutations associated with Rett syndrome (Lyst et al., 2013).

Molecular Function

This gene encodes a protien that mediates transcriptional repression by certain nuclear receptors and is part of a complex which promotes histone deacetylation and the formation of repressive chromatin structures which may impede the access of basal transcription factors.

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Model Summary

Smr mutants showed a habituation deficit. Smr suppresess ommatidial disorganization in MECP2 mutants.

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