Overview of several genes related to TGFβ/BMP signaling pathway associated with diseases marked by bone overgrowth

GeneChrProtein function in the TGFβ/BMP pathwayDisease (manifestation)References
TGFβ119Encodes a ligand involved in the activation of the TGFβ pathwayCED (OMIM#131300)[180]
ALK2/ACVR12Encodes the type I BMP receptorFOP (OMIM#135100)[177]
LEMD312Encodes a nuclear membrane protein that can inhibit the TGFβ pathwayOsteopoikilosis; Buschke-Ollendorff syndrome (OMIM#166700)[190]