PTCH2
Function
Plays a role in the control of cellular growth (PubMed:18285427). May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).
Involvement in disease
Medulloblastoma
MDB
Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.
None
Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Basal cell carcinoma
BCC
A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.
None
Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the patched family.
Cellular localization
- Membrane
- Multi-pass membrane protein
Alternative names
UNQ560/PRO1121/PRO57079, PTCH2, Protein patched homolog 2, PTC2