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PTCHD1 encodes a membrane protein with a patched domain.
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both common and rare PTCHD1 variants contribute to autism spectrum disorder.
Our findings suggest that hemizygous PTCHD1 loss of function causes an X-linked neurodevelopmental disorder with a strong propensity to autistic behaviors.
Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.
Systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with autism spectrum disorder and intellectual disability.
The Ptchd1 protein plays a critical role in the dentate gyrus and is associated with dendritic trafficking.
thalamic reticular nucleus-restricted deletion of Ptchd1 leads to attention deficits and hyperactivity, both of which are rescued by pharmacological augmentation of small conductance calcium-dependent potassium channel (show KCNAB2 Proteins) activity
This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286).
patched domain-containing protein 1