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BTK Bruton tyrosine kinase

Gene ID: 695, updated on 5-Jan-2022
Gene type: protein coding
Also known as: AT; ATK; BPK; XLA; IMD1; AGMX1; IGHD3; PSCTK1

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]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-03-24)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-24)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xq22.1
Sequence:
Chromosome: X; NC_000023.11 (101349450..101390796, complement)
Total number of exons:
21

Links

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