基因名:
PTCHD1
产品别名:
AUTSX4; PTCHD1; patched domain containing 1; patched domain containing 1; patched domain-containing protein 1; PTCHD1蛋白;
背景信息:
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]