BTK

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]

Description

Bruton tyrosine kinase

Protein family

Disease related genes, Enzymes, Mapped to UniProt SWISS-PROT, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

X:q22.1 (101349447 - 101390796)

Ensembl ID

ENSG00000010671  (ver. 84.38)

Orthologs

Mouse Btk: ENSMUSG00000031264

UniProt

Q06187

neXtProt

NX_Q06187

Human splice variants
Mouse splice variants