Aliases PTCH2, PTC2, patched 2 Human Mouse Ensembl ENSG00000117425 | Species Human Entrez 8643 | |
External IDs MGI: 1095405 HomoloGene: 37842 GeneCards: PTCH2 | ||
Patched 2 is a protein that in humans is encoded by the PTCH2 gene.
Contents
Function
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.
Clinical significance
Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia.
References
PTCH2 Wikipedia(Text) CC BY-SA