TNFRSF13C
Function
B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response.
Involvement in disease
Immunodeficiency, common variable, 4
CVID4
A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Highly expressed in spleen and lymph node, and in resting B-cells. Detected at lower levels in activated B-cells, resting CD4+ T-cells, in thymus and peripheral blood leukocytes.
Cellular localization
- Membrane
- Single-pass type III membrane protein
Alternative names
CD268, BAFFR, BR3, TNFRSF13C, Tumor necrosis factor receptor superfamily member 13C, B-cell-activating factor receptor, BAFF receptor, BLyS receptor 3, BAFF-R