Description
PTCH2 (patched 2), also known as PTC2, encodes a 1.203-amino acid putative transmembrane protein that is highly homologous to the PTCH product. The Patched-hedgehog signaling pathway is involved in establishing segment polarity and the anterior-posterior orientation of a number of developing appendages. The pathway is conserved from fly to vertebrates and has been implicated in a number of human neoplasms and developmental syndromes. Mutations in the human Patched gene are the basis of the nevoid basal cell carcinoma syndrome. With age, homozygous mutant male mice developed skin lesions consisting of alopecia and epidermal hyperplasia, suggesting a role for Ptch2 in adult epidermal homeostasis via Shh signaling