Information on mutations and polymorphisms in the PTCH1 gene. The human homologue of Drosophila patched, PTCH1, has been identified as the gene underlying the cancer predisposition syndrome Nevoid Basal Cell Carcinoma Syndrome (NBCCS, OMIM 109400). This syndrome is also known as Gorlin's syndrome or Basal Cell Nevus Syndrome.
| ID | PTCH |
|---|---|
| Home | http://www.cybergene.se/cgi-bin/w3-msql/ptchbase/index.html |
| EDAM topic | Mutation and polymorphism |
| EDAM topic | Cancer |
| Taxon | Homo sapiens |