Gene Summary: Osteoprotegerin, the protein encoded by this TNFRSF11B gene is a member of the TNF-receptor superfamily. Osteoprotegerin is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. Osteoprotegerin specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this TNFRSF11B gene have been reported, but their full length nature has not been determined.General information above from NCBI
Subunit structure: Homodimer. Interacts with TNFSF10 and TNFSF11.
Subcellular location: Secreted.
Tissue specificity: Highly expressed in adult lung, heart, kidney, liver, spleen, thymus, prostate, ovary, small intestine, thyroid, lymph node, trachea, adrenal gland, testis, and bone marrow. Detected at very low levels in brain, placenta and skeletal muscle. Highly expressed in fetal kidney, liver and lung.
Induction: Up-regulated by increasing calcium-concentration in the medium and estrogens. Down-regulated by glucocorticoids.
Post-translational: N-glycosylated. Contains sialic acid residues.
The N-terminus is blocked.
Involvement in disease: Juvenile Paget disease (JPD) [MIM:239000]: Rare autosomal recessive osteopathy that presents in infancy or early childhood. The disorder is characterized by rapidly remodeling woven bone, osteopenia, debilitating fractures, and deformities due to a markedly accelerated rate of bone remodeling throughout the skeleton. Approximately 40 cases of JPD have been reported worldwide. Unless it is treated with drugs that block osteoclast- mediated skeletal resorption, the disease can be fatal. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarity: Contains 2 death domains.
Contains 4 TNFR-Cys repeats.
General information above from UniProt