BTK (R28H), active

BTK (Bruton Tyrosine Kinase) is a member of the Tec family kinases which are important components of both antigen receptor signaling and other cell surface receptors, resulting in regulation of the actin cytoskeleton, adhesion, migration, and transcriptional activation. BTK is found in all cells of the hematopoietic lineage except plasma and T cells, and is required for normal B cell development and signal transduction through cell surface molecules. Mutations in the btk gene result in aberrant B cell development, leading to the X-linked agammaglobulinemia phenotype in humans and to the less severe X-linked immunodeficiency in mice. BTK inhibitors may be of benefit in the treatment of leukemias and lymphomas. GenBank NM_000061