Tumor necrosis factor ligand superfamily member 11 (TNFSF11 aka osteoclast differentiation factor, ODF) is a cytokine that is involved in the regulation of bone remodeling and playing multiple roles in the immune system. Its effects are mediated by its binding to tumor necrosis factor receptor superfamily members TNFRSF11A (aka RANK) (Nakagawa et al. 1998) and TNFRSF11B (aka OPG) (Luan et al. 2012).
Defects in TNFSF11 can cause autosomal recessive osteopetrosis 2 (OPTB2; MIM:259710), characterised by abnormally dense bone due to defective resorption of immature bone (Sobacchi et al. 2007). Defects in TNFRSF11A and B cause bone remodelling/osteopathy disorders (Hughes et al. 2000, Guerrini et al. 2008, Cundy et al. 2002).