1q231

1q231 is a gene located on the long arm of chromosome 1, specifically at position 23.1. It is a member of the immunoglobulin superfamily and encodes a protein known as CD163. CD163 is a type II transmembrane glycoprotein that plays a crucial role in the immune system, particularly in the clearance of apoptotic cells and the regulation of inflammation.

The 1q231 locus is associated with several genetic disorders and conditions. One notable example is the CD163-related autoimmunity syndrome, which is characterized by the development of autoimmune disorders such as rheumatoid arthritis, systemic lupus erythematosus, and autoimmune thyroiditis. The exact mechanisms underlying this association are not fully understood, but it is believed to involve the dysregulation of immune cell function and the clearance of apoptotic cells.

In addition to its role in autoimmunity, CD163 has been implicated in other immune-related conditions, including infectious diseases and cancer. For example, CD163 expression has been observed in certain types of cancer cells, where it may contribute to tumor progression and metastasis. Furthermore, CD163 has been studied as a potential target for therapeutic interventions in various immune-mediated diseases.

Research on the 1q231 locus and its encoded protein, CD163, continues to advance our understanding of immune regulation and the development of autoimmune and inflammatory disorders. Ongoing studies aim to elucidate the molecular mechanisms underlying CD163 function and to develop targeted therapies for the treatment of related conditions.