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The TNFRSF13C gene (TNFRSF13C stands for "TNF Receptor Superfamily Member 13C" ) is a protein coding gene located on chromosome 22q13.2.
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The protein encoded by this gene is a receptor for BAFF (BAFF receptor), a type III transmembrane protein with a single extracellular cysteine-rich domain. This receptor is the major receptor for BAFF-mediated survival of mature B cells.
B cell-activating factor (BAFF) promotes B cell survival in vitro and is a regulator of the peripheral B cell population. Overexpression of Baff in mice leads to hyperplasia of mature B cells and symptoms of systemic lupus erythematosus (SLE). In addition, some patients with SLE have elevated serum BAFF levels. Abnormally high BAFF levels are thought to contribute to the pathogenesis of autoimmune diseases by promoting the survival of autoreactive B cells.
Diseases associated with TNFRSF13C include Common Variable Immunodeficiency 4 (CVID4).
