Definition

A gene that is part of a cell signaling pathway involved in the formation of tissues and organs, cell growth, and cell division during embryonic development. Mutations (changes) in the PTCH1 gene may cause cells to grow and divide too quickly or in an uncontrolled way. This may cause abnormal cells, including cancer cells, to grow. PTCH1 gene mutations have been found in an inherited condition called basal cell nevus syndrome and in many types of cancer, including basal cell skin cancer, medulloblastoma (a type of brain cancer), breast cancer, and colon cancer. The PTCH1 gene is a type of tumor suppressor gene.