PTCH2
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Patched 2 is a protein that in humans is encoded by the PTCH2 gene.[1]
Function
[edit | edit source]This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway.[1]
Clinical significance
[edit | edit source]Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia.[1]
References
[edit | edit source]Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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