HLA-C
HLA-C is a gene that provides instructions for making a protein that plays a crucial role in the immune system. HLA-C 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.
Function[edit | edit source]
The HLA-C gene belongs to the HLA class I group. These genes produce proteins that are found on the surface of almost all cells. The HLA-C protein attaches itself to a protein fragment (antigen) inside the cell. This complex moves to the cell surface, where it is recognized by the immune system. If the immune system recognizes the antigen as foreign, it triggers a response to attack the infected cells.
Role in Disease[edit | edit source]
Certain variations of the HLA-C gene are associated with an increased risk of developing specific diseases. For example, one variant is associated with a higher risk of HIV progression to AIDS. Another variant is linked to a higher risk of developing psoriasis, a skin condition.
Genetic Location[edit | edit source]
The HLA-C gene is located on the short (p) arm of chromosome 6 at position 21.3, from base pair 31,227,522 to base pair 31,236,356.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
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Contributors: Prab R. Tumpati, MD