BTK


Bruton tyrosine kinase


ENTREZID: 695 | Type: Protein Coding | Map: Xq22.1

OMIM: 307200 | 300755 | 300300


Summary Entrez
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]