Bruton Agammaglobulinemia Tyrosine Kinase

Alternative Names

  • BTK
  • Agammaglobulinemia Tyrosine Kinase
  • ATK
  • B-Cell Progenitor Kinase
  • BPK
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OMIM Number

300300

NCBI Gene ID

695

Uniprot ID

Q06187

Length

41,347 bases

No. of Exons

21

No. of isoforms

2

Protein Name

Tyrosine-protein kinase BTK

Molecular Mass

76281 Da

Amino Acid Count

659

Genomic Location

chrX:101,349,449-101,390,795

Gene Map Locus
Xq22.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001287344.2:c.80G>AUnited Arab EmiratesNC_000023.11:g.101375307C>TBruton Agammaglobulinemia Tyrosine KinaseNG_009616.1:g.15918G>A; NM_001287344.2:c.80G>A; NP_001274273.1:p.Gly27Asp
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