BTK (NM_001287344) - Bruton tyrosine kinase
Tyrosine-Protein Kinase Btk Isoform 3
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Protein
Kinases
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Protein 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].
- Strand
- -
- Chromosome
- X
- Protein
- 693 residues
- All mutations
- 174
- PTM sites
- 29
- CDS
- 100,604,872 - 100,645,537
- Transcription
- 100,604,434 - 100,645,784
Usage summary
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PTM site
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Kinase, PTM site or protein
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