PTCH2


Description

The PTCH2 (patched 2) is a protein-coding gene located on chromosome 1.

PTCH2 is a human gene encoding a transmembrane receptor belonging to the patched gene family. It may act as a tumor suppressor in the hedgehog signaling pathway. Alterations in the PTCH2 gene have been linked to nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and increased susceptibility to congenital macrostomia.

PTCH2 is involved in regulating cell growth, potentially contributing to epidermal development. It might serve as a receptor for the Sonic hedgehog (SHH) signaling molecule.

PTCH2 is also known as PTC2.

Associated Diseases


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