{"symbol":"BTK","synonyms":["IMD1","ATK","XLA","PSCTK1","AT","AGMX1","BPK"],"name":"Bruton agammaglobulinemia tyrosine kinase","description":"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]","ncbiEntrezGeneId":695,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/695","proteins":[{"symbol":"BTK_HUMAN","href":"/api/1.0/protein/BTK_HUMAN"}],"hgncRootFamilies":[{"name":"Pleckstrin homology domain containing (PLEKH)","href":"/api/1.0/gene_family/Pleckstrin+homology+domain+containing+%28PLEKH%29"},{"name":"SH2 domain containing","href":"/api/1.0/gene_family/SH2+domain+containing"}]}