Relevance to Autism

De novo missense variants and transmitted frameshift variants in the UIMC1 gene have been observed in ASD probands in multiple studies (Iossifov et al., 2014; Yuen et al., 2017; Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified UIMC1 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.

Molecular Function

This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription.

External Links

References