MG-136 Functional analysis of the autism and intellectual disability gene PTCHD1 reveals hedgehog receptor-like functions and pdz-binding domain-specific regulation of CNTNAP1 and NLGN1
Abstract:BackgroundGenomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID). Recently, we reported on 23 individuals in 17 families with loss CNVs or frame-shifting indels disrupting PTCHD1. However, little is known for the function of PTCHD1.Objectives
PTCHD1, an X-linked gene for ASD and/or (ID), encodes a protein with homology to the sonic hedgehog (Shh) receptors PTCH1 and 2, and has been reported to show similar Gli repression activit… Show more
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