| Bruton Agammaglobulinemia Tyrosine Kinase | OKDB#: 3245 |
| Symbols: | BTK | Species: | human | ||
| Synonyms: | AT, ATK, BPK, XLA, IMD1, AGMX1, PSCTK1, MGC126261, MGC126262,AGAMMAGLOBULINEMIA TYROSINE KINASE, ATK|B-CELL PROGENITOR KINASE, BPK|AGAMMAGLOBULINEMIA, X-LINKED, INCLUDED, XLA, INCLUDED|BRUTON TYPE AGAMMAGLOBULINEMIA, INCLUDED|AGAMMAGLOBULINEMIA, X-LINKED, | Locus: | Xq21.33-q22 in Homo sapiens |
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Mammalian Reproductive Genetics Endometrium Database Resource Orthologous Genes UCSC Genome Browser GEO Profiles new! Amazonia (transcriptome data) new! R-L INTERACTIONS MGI |
| General Comment |
NCBI Summary: Defects in the Bruton tyrosine kinase (BTK) gene cause Agammaglobulinemia. Agammaglobulinemia is an X-linked immunodeficiency characterized by failure to produce mature B lymphocyte cells and associated with a failure of Ig heavy chain rearrangement. |
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| General function | Enzyme, Transferase | ||||
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| Cellular localization | Cytoplasmic | ||||
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| Ovarian function | Oogenesis, Oocyte maturation | ||||
| Comment | Genes whose expression is detected by cDNA array hybridization: transporters, signal transduction Rozenn Dalbis-Tran and Pascal Mermilloda | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
| Links |
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| created: | June 22, 2006, 12:47 p.m. | by: |
alex email:
home page: |
| last update: | July 25, 2006, 3:57 p.m. | by: | Alex email: |
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