| Protein Name | Bruton tyrosine kinase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 695 |
| Gene Symbol | BTK |
| UniProt | Q06187 (BTK_HUMAN), Q5JY90 (Q5JY90_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
383
Total Number of Articles : 1139 |
Description |
Bruton tyrosine kinase |
| Gene 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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| Properties | |