免疫原
Purified recombinant human BTK protein fragments expressed in E.coli.
特异性
This antibody detects endogenous levels of BTK and does not cross-react with related proteins.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogen.
其他名称
Agammaglobulinaemia tyrosine kinase;AGMX 1;AGMX1;AT;ATK;B cell progenitor kinase;B-cell progenitor kinase;BPK;Bruton agammaglobulinemia tyrosine kinase;Bruton tyrosine kinase;Bruton’s Tyrosine Kinase;Btk;BTK_HUMAN;IMD 1;IMD1;MGC126261;MGC126262;OTTHUMP00000063593;PSCTK 1;PSCTK1;Tyrosine protein kinase BTK;Tyrosine-protein kinase BTK;XLA
背景
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],
功能
catalytic activity:ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.,cofactor:Binds 1 zinc ion per subunit.,disease:Defects in BTK are the cause of X-linked agammaglobulinemia (XLA) [MIM:300755]; also called X-linked agammaglobulinemia type 1 (AGMX1) or immunodeficiency type 1 (IMD1). XLA is a humoral immunodeficiency disease which results in developmental defects in the maturation pathway of B-cells. Affected boys have normal levels of pre-B-cells in their bone marrow but virtually no circulating mature B-lymphocytes. This results in a lack of immunoglobulins of all classes and leads to recurrent bacterial infections like otitis, conjunctivitis, dermatitis, sinusitis in the first few years of life, or even some patients present overwhelming sepsis or meningitis, resulting in death in a few hours. Treatment in most cases is by infusion of intravenous immunoglobulin.,
