Gene Symbol | BTK |
Entrez Gene ID | 695 |
Full Name | Bruton tyrosine kinase |
Synonyms | AGMX1,AT,ATK,BPK,IMD1,PSCTK1,XLA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Agammaglobulinemia, X-linked 1, 300755 (3); Agammaglobulinemia and isolated hormone deficiency, 307200 (3) |