BDKRB2
BDkrb2: A Key Regulator in the Body's Defense System
Description
BDkrb2, also known as Bruton's tyrosine kinase, is a crucial enzyme that plays a vital role in the body's immune system. It is primarily expressed in B lymphocytes (B cells), which are white blood cells responsible for antibody production and immune response. BDkrb2 is essential for the activation, differentiation, and survival of B cells, enabling them to effectively target and destroy invading pathogens.
Associated Diseases
Dysregulation of BDkrb2 can lead to a range of immune-related disorders, including:
- X-linked agammaglobulinemia (XLA): A rare genetic disorder characterized by a severe deficiency of antibodies, leading to recurrent and life-threatening infections.
- Common variable immunodeficiency (CVID): A heterogeneous group of disorders characterized by low levels of antibodies, resulting in an impaired immune response to infections.
- Muir-Torre syndrome: A rare autosomal dominant condition associated with skin tumors and internal malignancies, such as endometrial and colorectal cancer.
Did you Know ?
X-linked agammaglobulinemia, caused by mutations in the BDkrb2 gene, affects approximately 1 in 200,000 males.
