Relevance to Autism

Rare de novo missense variants in the FAT1 gene have been identified in ASD probands by whole-exome sequencing in two reports (Neale et al., 2012; Iossifov et al., 2014), while inherited damaging missense variants in FAT1 have been observed in affected individuals from three extended multiplex ASD families (Cukier et al., 2014).

Molecular Function

This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication.

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