FAM24B
FAM24B: A Key Player in Immune Regulation and Disease
Description
FAM24B (family with sequence similarity 24, member B) is a protein that plays a crucial role in regulating immune responses. It belongs to the DEP domain-containing family and is expressed in various immune cells, including macrophages, dendritic cells, and neutrophils.
FAM24B contains a DEP domain known for its role in signal transduction and cytoskeletal organization. Additionally, it interacts with other proteins involved in immune signaling, such as CARD9 and ASC, to activate the inflammasome, a multi-protein complex that triggers inflammatory responses.
Associated Diseases
Alterations in FAM24B expression or function have been implicated in several diseases, including:
- Autoimmune Disorders: FAM24B deficiency has been linked to autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis.
- Inflammatory Bowel Disease: Increased expression of FAM24B has been associated with Crohn‘s disease and ulcerative colitis.
- Tuberculosis: FAM24B plays a role in protecting against Mycobacterium tuberculosis infection by regulating inflammasome activation.
- Cancer: FAM24B has been implicated in the development and progression of certain cancers, such as breast and ovarian cancer.
Did you Know ?
According to a study published in Nature Genetics, individuals with rare genetic variants in the FAM24B gene are more likely to develop autoimmune diseases. Specifically, carriers of the rs72673169 variant have an approximately 2-fold increased risk of SLE.
