BTK, Official Symbol BTKprovided by HGNC Official Full Name Bruton tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:1133 See related Ensembl:ENSG00000010671 MIM:300300; AllianceGenome:HGNC:1133 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AT; ATK; BPK; XLA; IMD1; AGMX1; IGHD3; PSCTK1 Summary 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] Expression Biased expression in lymph node (RPKM 25.2), spleen (RPKM 18.4) and 13 other tissues See more Orthologs mouse all