BTK

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolBTK
NameBruton tyrosine kinase
Typeprotein-coding
Sourcemygene

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].

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