HLA-DQA1

HLA-DQA1 is a gene that provides instructions for making a protein that plays a critical role in the immune system. HLA-DQA1 is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria.

Structure[edit | edit source]

The HLA-DQA1 gene is located on the short (p) arm of chromosome 6 at position 21. The protein encoded by this gene is a subunit of the HLA-DQ heterodimer, which consists of a DQA1 chain and a DQB1 chain. This heterodimer is anchored in the membrane of antigen presenting cells and presents foreign antigens to the immune system.

Function[edit | edit source]

The HLA-DQA1 gene product is involved in the presentation of peptide antigens to the immune system. This is a crucial step in the immune response, allowing the immune system to recognize and respond to foreign antigens. The HLA-DQA1 protein works by binding to these antigens and presenting them on the surface of cells. This triggers an immune response, including the production of antibodies, which can neutralize the foreign substance.

Clinical significance[edit | edit source]

Mutations in the HLA-DQA1 gene have been associated with a variety of autoimmune diseases, including celiac disease, rheumatoid arthritis, and type 1 diabetes. These conditions occur when the immune system malfunctions and attacks the body's own cells. In these cases, the HLA-DQA1 protein may bind to self-antigens, leading to an inappropriate immune response.