BTK (Bruton's tyrosine kinase or tyrosine-protein kinase BTK) was initially identified as a member of the src family for protein-tyrosine kinases that was involved in X-linked a-gamma-globulinaemia, and has since been shown to be involved in a number of signaling pathways in hemapoietic lineage. It has recently been shown to interact with members of the toll-like receptor (TLR) family such as TLR4, 6, 8, and 9. The TLRs are critical molecules in both the innate and adaptive immunity and can recognize diverse microbial pathogens. BTK has also been shown to interact with key proteins involved in TLR4 signal transduction such as MyD88, TIRAP, and IRAK, but not TRAF-6, suggesting that BTK is involved in lipopolysaccharide signal transduction. 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.
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Protein Aliases: agammaglobulinaemia tyrosine kinase; Agammaglobulinemia tyrosine kinase; ATK; B-cell progenitor kinase; BPK; Bruton agammaglobulinemia tyrosine kinase; Bruton tyrosine kinase; Bruton's tyrosine kinase; dominant-negative kinase-deficient Brutons tyrosine kinase; MGC126261; MGC126262; OTTHUMP00000023677; RP1-164F3.2; truncated Bruton agammaglobulinemia tyrosine kinase; Tyrosine-protein kinase BTK; tyrosine-protein kinase BTK isoform (lacking exon 13 to 17); tyrosine-protein kinase BTK isoform (lacking exon 14)
Gene Aliases: AGMX1; AT; ATK; BPK; BTK; IMD1; PSCTK1; XLA
UniProt ID: (Human) Q06187
Entrez Gene ID: (Human) 695
Molecular Function: scaffold/adaptor protein