Three case-specific loss-of-function variants were identified in the PATJ gene (formerly known as INADL) following the sequencing of 215 synaptic genes in 147 cases with ASD, 273 cases with schizophrenia, and 287 controls (Kenny et al., 2013). Quantitative GWAS analysis of 2,509 ASD probands from a German cohort and the Autism Genome Project in Yousaf et al., 2020 identified an intronic SNP in the PATJ gene (rs2095092) that reached genome-wide significance for association with the Social Interaction subdomain of the Autism Diagnostic Interview-Revised (ADI-R) (P-value 4.3E-08).
Molecular Function
This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.
