Ptch1, also known as Patched 1, is a tumor suppressor and serves as the receptor of Hedgehog (HH) ligand, negatively regulating the HH signaling pathway. Mutations of PTCH1 are implicated in many human cancers [4].

Mutations in PTCH1 have been linked to various diseases. A novel heterozygous non-frameshift deletion in PTCH1 may cause Gorlin-Goltz syndrome by leading to structural and functional abnormalities of the PTCH1 protein [1]. In keratocystic odontogenic tumors, mutations in transmembrane 2 (TM2) of PTCH1 are closely related to the development of sporadic cases, and biallelic inactivation of PTCH1 is a dominant genomic change in these tumors, suggesting SHH pathway alterations are common [2,6]. In non-small cell lung cancer, knockdown of PTCH1 inhibits spherical colony formation, migration, invasion, and reduces bone destruction and osteoclastogenesis, indicating it promotes anchorage-independent growth and bone invasion [3]. In colorectal and gastrointestinal cancers, PTCH1 mutations are associated with better prognosis, higher tumor mutational burden, and more antitumor immune signatures, making it a potential biomarker for predicting response to immune checkpoint inhibitors [5,7]. In ovarian cancer, low PTCH1 expression is related to poor prognosis, and overexpression of PTCH1 inhibits cell proliferation and promotes apoptosis [8]. Additionally, PTCH1 gene may be associated with non-syndromic cleft lip with or without palate in the Ningxia population [9].

In conclusion, Ptch1 is a crucial regulator in the HH signaling pathway. Its mutations are associated with multiple diseases, including Gorlin-Goltz syndrome, various tumors, and potentially non-syndromic cleft lip with or without palate. Understanding Ptch1's function through these disease-related studies helps in uncovering disease mechanisms and potentially developing targeted therapies.