CARD11
CARD11
CARD11 (Caspase Recruitment Domain Family Member 11) is a protein encoded by the CARD11 gene in humans. It is a member of the caspase recruitment domain (CARD) family of proteins, which are involved in the regulation of apoptosis and immune response. CARD11 plays a crucial role in the activation of NF-_B signaling pathways, which are essential for lymphocyte activation, proliferation, and survival.
Structure
CARD11 is characterized by the presence of a CARD domain, which is a protein interaction module that mediates the assembly of signaling complexes. The protein also contains a coiled-coil domain, a PDZ domain, and a MAGUK domain, which are important for its function in signal transduction.
Function
CARD11 is primarily expressed in lymphoid tissue and is a critical component of the B-cell receptor (BCR) and T-cell receptor (TCR) signaling pathways. Upon antigen recognition, CARD11 undergoes a conformational change that allows it to interact with other signaling molecules, leading to the activation of the IKK complex and subsequent activation of NF-_B.
Clinical Significance
Mutations in the CARD11 gene have been associated with various immunodeficiency disorders and lymphoproliferative diseases. Gain-of-function mutations can lead to constitutive activation of NF-_B, contributing to the development of B-cell lymphomas. Conversely, loss-of-function mutations can result in impaired immune responses, leading to conditions such as severe combined immunodeficiency (SCID).
Research
Ongoing research is focused on understanding the precise molecular mechanisms by which CARD11 regulates NF-_B signaling and its role in immune system disorders. Targeting CARD11 and its associated pathways is being explored as a potential therapeutic strategy for treating certain types of cancer and autoimmune diseases.
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Contributors: Prab R. Tumpati, MD