TNFRSF13C
TNFRSF13C, also known as BAFF-R (B-cell activating factor receptor), is a protein that in humans is encoded by the TNFRSF13C gene. It is a type III transmembrane protein of the TNF receptor superfamily.
Function[edit | edit source]
BAFF-R is the principal receptor for BAFF (B cell activating factor) and plays a crucial role in B cell survival and maturation. BAFF and its receptor interact to influence B-cell maturation, survival, activity, and antibody production.
Clinical significance[edit | edit source]
Mutations in the TNFRSF13C gene can lead to an immunodeficiency known as Common variable immunodeficiency (CVID), which is characterized by low levels of serum immunoglobulins and antibodies, leading to recurrent bacterial infections.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
