基因注释：PTCHD1
官方信息
官方名称：patched domain containing 1
功能摘要：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].
作为靶基因的剪接因子
关联疾病
该基因暂无关联疾病记录