Aliases for PTCHD1 Gene
External Ids for PTCHD1 Gene
Previous GeneCards Identifiers for PTCHD1 Gene
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). [provided by RefSeq, Aug 2011]
GeneCards Summary for PTCHD1 Gene
PTCHD1 (Patched Domain Containing 1) is a Protein Coding gene. Diseases associated with PTCHD1 include Autism X-Linked 4 and Non-Syndromic X-Linked Intellectual Disability. Gene Ontology (GO) annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is PTCHD4.
UniProtKB/Swiss-Prot Summary for PTCHD1 Gene
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.