FCER1
FCER1 is a gene that encodes the alpha chain of high affinity IgE receptor which is a member of the immunoglobulin superfamily. This receptor is found on the surface of mature B cells, and is involved in antigen binding, signal transduction, and allergy development.
Structure[edit | edit source]
The FCER1 gene is located on the long arm of chromosome 1 (1q23.2). It spans about 44.2 kilobases and consists of 8 exons. The FCER1 protein is a type I transmembrane protein with an extracellular domain consisting of two immunoglobulin-like domains.
Function[edit | edit source]
The FCER1 gene encodes the alpha chain of the high affinity IgE receptor. This receptor binds to the Fc region of IgE antibodies, which are produced in response to allergens. When an allergen binds to the IgE antibody, it triggers the release of histamine and other inflammatory mediators from mast cells and basophils, leading to allergic reactions.
Clinical significance[edit | edit source]
Mutations in the FCER1 gene have been associated with susceptibility to allergic diseases, including asthma, atopic dermatitis, and allergic rhinitis. In addition, overexpression of FCER1 has been observed in certain types of cancers, suggesting a potential role in tumorigenesis.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
