PTCHD1
Function
Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention. Can bind cholesterol in vitro (PubMed:36769003).
Involvement in disease
Autism, X-linked 4
AUTSX4
A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the patched family.
Tissue Specificity
Widely expressed, including in various regions of the brain with highest expression in the gray and white cerebellum, followed by the cerebellar vermis and the pituitary gland.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Cell projection
- Dendritic spine
Alternative names
Patched domain-containing protein 1, PTCHD1