FUNCTION: SwissProt: O14788 # Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy.
SIZE: 317 amino acids; 35478 Da
SUBUNIT: Homotrimer (By similarity).
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type II membrane protein. & Isoform 3: Cell membrane; Single-pass type II membrane protein. & Isoform 2: Secreted (By similarity). & Processed isoform 1: Secreted (By similarity).
TISSUE SPECIFICITY: Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid.
PTM: The soluble form of isoform 1 derives from the membrane form by proteolytic processing (By similarity). The cleavage may be catalyzed by ADAM17.
DISEASE: "SwissProt: O14788 # Defects in TNFSF11 are the cause of osteopetrosis autosomal recessive type 2 (OPTB2) [MIM:259710]; also known as osteoclast-poor osteopetrosis. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of non- functional osteoclasts. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development."
SIMILARITY: SwissProt: O14788 ## Belongs to the tumor necrosis factor family.