Gene Symbol | PTCHD1 |
Entrez Gene ID | 139411 |
Full Name | patched domain containing 1 |
Synonyms | AUTSX4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | {Autism, susceptibility to, X-linked 4}, 300830 (3) |