A de novo nonsense variant in the MUC12 gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014. Six non-synonymous postzygotic mosaic mutations (PZMs) in this gene were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (6/571 observed vs. 233/84,448 expected; hypergeometric P-value of 5.3E-03).
Molecular Function
This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
