PTCHD1, Official Symbol PTCHD1provided by HGNC Official Full Name patched domain containing 1provided by HGNC Primary source HGNC:HGNC:26392 See related Ensembl:ENSG00000165186 MIM:300828; AllianceGenome:HGNC:26392 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AUTSX4; DELXP22.11; CXDELp22.11 Summary 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] Expression Biased expression in brain (RPKM 1.9), endometrium (RPKM 0.9) and 12 other tissues See more Orthologs mouse all