MAS1
MAS1: A Versatile Gene with Diverse Functions and Implications
Description:
MAS1 (male-associated antigen 1) is a gene located on the X chromosome that encodes a protein commonly known as CD45. This protein plays a crucial role in the regulation of immune responses and is expressed on the surface of white blood cells. MAS1 is involved in various cellular processes, including cell activation, proliferation, and apoptosis.
Associated Diseases:
MAS1 is associated with several diseases, including:
- X-linked immunodeficiency with hyper IgM (XHIM): A rare genetic disorder characterized by impaired B cell function and recurrent infections.
- Common variable immunodeficiency (CVID): A primary immunodeficiency disorder affecting antibody production.
- Lymphoma: A type of cancer that affects lymphocytes, a type of white blood cell.
- Rheumatoid arthritis: An autoimmune disease that causes joint inflammation and pain.
Did you Know ?
- Mutations in the MAS1 gene are estimated to occur in approximately 1 in 10,000 males.
