PTCHD1( Human )

Entrez Gene 139411 Entrez Gene 139411
patched domain containing 1

Alias

AUTSX4

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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