PTCH1 is a ‘cancer protection’ gene that helps to protect against skin cancers and childhood brain cancer. PTCH1 also helps bones develop.
Everyone has two PTCH1 genes (one from their mother, and one from their father). If one of the genes is not working, this is known as having a faulty PTCH1 gene, or having a PTCH1 mutation. People with a faulty PTCH1 gene are known to have Gorlin syndrome or nevoid basal cell carcinoma syndrome.