BTK Antibody – Rabbit Polyclonal

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

Btk: a tyrosine kinase of the Tec family. Plays a crucial role in B-cell ontogeny. Defects cause X-linked agammaglobulinemia, an immunodeficiency characterized by failure to produce mature B lymphocyte cells and associated with a failure of Ig heavy chain rearrangement. Truncated splice forms found in childhood leukemias may underlie radiation resistance of tumors through inhibition of apoptosis.

Protein type: EC 2.7.10.2; Kinase, protein; Protein kinase, TK; Protein kinase, tyrosine (non-receptor); TK group; Tec family

Chromosomal Location of Human Ortholog: Xq21.33-q22

Cellular Component: cytoplasm; cytoplasmic vesicle; cytosol; extrinsic to internal side of plasma membrane; intracellular membrane-bound organelle; lipid raft; nucleus; plasma membrane

Molecular Function: ATP binding; identical protein binding; metal ion binding; non-membrane spanning protein tyrosine kinase activity; phosphatidylinositol-3,4,5-triphosphate binding; protein binding; protein-tyrosine kinase activity; receptor binding

Biological Process: activation of NF-kappaB transcription factor; adaptive immune response; B cell activation; B cell receptor signaling pathway; calcium-mediated signaling; cell maturation; I-kappaB kinase/NF-kappaB cascade; innate immune response; mesoderm development; MyD88-dependent toll-like receptor signaling pathway; negative regulation of cytokine production; peptidyl-tyrosine phosphorylation; positive regulation of B cell differentiation; protein amino acid phosphorylation; regulation of B cell apoptosis; regulation of B cell cytokine production; regulation of cell proliferation; transcription, DNA-dependent; transmembrane receptor protein tyrosine kinase signaling pathway

Disease: Agammaglobulinemia, X-linked; Isolated Growth Hormone Deficiency, Type Iii