| GENE NAME | PTCH1 |
| CHROMOSOME | 9 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000185920 |
| UNIPROT ACCESSION NUMBER | Q13635 |
| GO MOLECULAR FUNCTION | ['cyclin binding', 'patched binding', 'smoothened binding', 'protein-containing complex binding', 'hedgehog family protein binding', 'protein binding', 'heparin binding', 'cholesterol binding', 'hedgehog receptor activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04024; hsa04340; hsa04360; hsa05200; hsa05205; hsa05217; R-HSA-162582; R-HSA-372790; R-HSA-373080; R-HSA-500792; R-HSA-5358351; R-HSA-5610787; R-HSA-5632681; R-HSA-5632684; R-HSA-5635838 |
| 4 combinations linked to PTCH1 | OLI681; OLI692; OLI1572; OLI696 |
| 6 variants linked to PTCH1 | PTCH1:p.Pro1211Ser; PTCH1:c.2671G>A, p.Gly891Ser; PTCH1:c.2635G>A, p.Asp879Asn; PTCH1:c.37C>G, p.Arg13Gly; PTCH1:c.2635G>A, p.Asp879Asn; PTCH1:c.4151C>T, p.Pro1384Leu |
| 3 diseases linked to PTCH1 | Isolated anencephaly; Holoprosencephaly; Syndrome with 46,XY disorder of sex development |