Relevance to Autism

De novo missense variants and rare inherited loss-of-function (LoF) variants in the MUC4 gene were identified in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (Iossifov et al., 2012; De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015). Targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified additional rare inherited LoF and damaging missense variants in this gene in ASD probands. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, identified MUC4 as an ASD candidate gene with a PTADA of 0.000105.

Molecular Function

The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist.

External Links

References