Btk(redirected from tyrosine-protein kinase BTK isoform)
Abbreviation for Bruton tyrosine kinase.
BTKA gene on chromosome Xq21.33-q22 that encodes a protein which plays a central role in B-cell development, differentiation and signalling. Binding of antigens to the B-cell antigen receptor (BCR) triggers signalling that leads to B-cell activation.
Defects of BTK cause X-linked agammaglobulinaemia (OMIM:300755), as well as X-linked hypogammaglobulinaemia and isolated growth hormone deficiency (OMIM:307200).
Bruton's agammaglobulinemia tyrosine kinase (Btk)
An enzyme vital for the maturation of B cells.
Mentioned in: X-Linked Agammaglobulinemia