Gene Symbol | PTCH2 |
Entrez Gene ID | 8643 |
Full Name | patched 2 |
Synonyms | PTC2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Medulloblastoma, somatic, 155255 (3); Basal cell carcinoma, somatic, 605462 (3); Basal cell nevus syndrome, 109400 (3) |