| Entrez Gene ID |
695 |
| Official Gene Symbol |
BTK (GeneCards) |
| Full name |
Bruton tyrosine kinase |
| Location |
Xq22.1 |
| Other ids |
Vega : OTTHUMG00000022022
MIM : 300300
HGNC : HGNC:1133
Ensembl : ENSG00000010671
|
| Other names |
AT,
ATK,
BPK,
XLA,
IMD1,
AGMX1,
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] |