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 PTCH2 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. PTCH2 gene mutations have been found in an inherited condition called basal cell nevus syndrome and in some types of cancer, including basal cell skin cancer and medulloblastoma (a type of brain cancer). The PTCH2 gene is a type of tumor suppressor gene.