Patched

Patched is a family of proteins that serve as receptors in the Hedgehog signaling pathway, a fundamental signaling system in animals. The name "patched" derives from the Drosophila gene patched, mutations in which cause the development of an abnormal "patchy" body pattern.

Function

The Patched proteins are integral membrane proteins that function as receptors for the Hedgehog proteins. In the absence of Hedgehog, Patched represses the activity of another protein called Smoothened. When Hedgehog binds to Patched, this repression is relieved and Smoothened can activate downstream components of the Hedgehog pathway.

Structure

Patched proteins have 12 transmembrane domains and two extracellular loops. The first extracellular loop contains a sterol-sensing domain, which is thought to be involved in the repression of Smoothened.

Role in disease

Mutations in the human PTCH1 gene, which encodes a Patched protein, are associated with basal cell carcinoma and Gorlin syndrome, a condition characterized by the development of multiple basal cell carcinomas and other abnormalities.

See also

• Hedgehog signaling pathway
• Smoothened
• Hedgehog protein
• Basal cell carcinoma
• Gorlin syndrome

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