Overview of several genes related in HH signaling pathway associated with diseases marked by bone overgrowth
| Gene | Chr | Protein function in HH pathway | Disease (manifestation) | References |
|---|---|---|---|---|
| GNAS | 20 | Encodes Gαs which inhibits HH signaling pathway through cAMP and PKA | POH (OMIM#166350) | [148] |
| PTCH1 | 9 | Transmembrane protein that functions as a receptor for the secreted HH signaling molecules | Gorlin syndrome (OMIM#109400) | [151] |