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IBTK inhibitor of Bruton tyrosine kinase

Gene ID: 25998, updated on 4-Jul-2021
Gene type: protein coding
Also known as: BTKI; BTBD26

Summary

Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
GeneReviews: Not available

Genomic context

Location:
6q14.1
Sequence:
Chromosome: 6; NC_000006.12 (82169987..82247747, complement)
Total number of exons:
30

Links

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