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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].
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Protein Aliases: FLJ30296; MGC149798; Patched domain-containing protein 1; PTCHD1 isoform
Gene Aliases: 9630036J22Rik; AI848149; AUTSX4; Gm387; PTCHD1
UniProt ID: (Human) Q96NR3, (Mouse) Q14B62
Entrez Gene ID: (Human) 139411, (Mouse) 211612
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