TAP2
TAP2 is a protein that in humans is encoded by the TAP2 gene. The protein encoded by this gene is involved in the antigen processing pathway of the immune system. It is located in the endoplasmic reticulum, where it functions to transport peptides from the cytoplasm into the endoplasmic reticulum, a critical step in the immune response to pathogens.
Function
The TAP2 gene, along with the TAP1 gene, encodes a protein that is a member of the ABC transporter superfamily. These proteins function to transport various molecules across extra- and intra-cellular membranes. The TAP1 and TAP2 proteins form a heterodimer that is involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum. This process is essential for the presentation of antigens to the immune system.
Clinical significance
Mutations in the TAP2 gene have been associated with various autoimmune diseases, including ankylosing spondylitis, type 1 diabetes, and coeliac disease. Additionally, variations in this gene may influence susceptibility to viral infections, including HIV and hepatitis C.
See also
References
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Contributors: Prab R. Tumpati, MD