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PTCHD1 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).
Gene Name: | patched domain containing 1 |
Synonyms: | PTCHD1, Patched domain containing 1 |
Target Sequences: | NP_775766.2 Q96NR3 |
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