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BTK - Bruton tyrosine kinase
- Synonym(s) : ATK, Bruton's tyrosine kinase, PSCTK1, XLA
- Previous symbols and names : AGMX1, Bruton agammaglobulinemia tyrosine kinase, IMD1
- Type : gene with protein product
- Chromosomal location : Xq22.1
- OMIM: 300300
- HGNC: 1133
- UniProtKB: Q06187
- Genatlas: BTK
- GenCC: BTK
- Ensembl: ENSG00000010671
- IUPHAR-DB: 1948
- Reactome: Q06187
- LOVD: BTK
Diseases list
- Disease-causing germline mutation(s) in Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
ORPHA:632 
- Disease-causing germline mutation(s) in X-linked agammaglobulinemia
ORPHA:47
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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