BTK (E41K), active

Background Information:

N-terminal 6His-tagged recombinant, human full length BTK. Specific mutations within the pleckstrin homology (PH) domain of BTK results in human X-linked aγglobulinemia (XLA). The E41K substitution, identified through random mutagenesis, is a PH domain gain-of-function mutation that has been shown to be associated with increased membrane localization and tyrosine phosphorylation of BTK. Using animal models, this mutation has been shown to arrest the development of immature B cells and to act as a tumor suppressor in B-cell linker protein (BLNK/SLP-65)-deficient hosts. (Li, .et al., Immunity,(1995);2:451-460 and Baraldi, E., et al., Structure,(1999);7:449-460).

Target Class:

Kinase

Family:

TK

Sub Family:

Protein Tyrosine

Protein Name:

BTK

Protein Aliases:

Bruton's tyrosine kinase

Accession Number:

NM_000061

UniProt Number:

Q06187

Gene Name:

BTK

Gene ID:

695

Gene Aliases:

ATK|XLA|PSCTK1

Target Species:

Human