User:JonSDSUGrad/Sandbox/TEST BTK

From Wikipedia, the free encyclopedia

Bruton agammaglobulinemia tyrosine kinase
Identifiers
Symbol(s)	BTK; AGMX1; AT; ATK; BPK; IMD1; MGC126261; MGC126262; PSCTK1; XLA
External IDs	OMIM: 300300 MGI: 88216 HomoloGene: 30953
Gene ontology Molecular Function: • nucleotide binding • protein-tyrosine kinase activity • protein binding • ATP binding • cytoplasm • protein amino acid phosphorylation • intracellular signaling cascade • I-kappaB kinase/NF-kappaB cascade • mesoderm development • zinc ion binding • induction of apoptosis by extracellular signals • kinase activity • transferase activity • peptidyl-tyrosine phosphorylation • calcium-mediated signaling • cytoplasmic vesicle • lipid raft • metal ion binding
Orthologs
	Human	Mouse
Entrez	695	12229
Ensembl	ENSG00000010671	ENSMUSG00000031264
Uniprot	Q06187	P35991
Refseq	NM_000061 (mRNA) NP_000052 (protein)	NM_013482 (mRNA) NP_038510 (protein)
Location	Chr X: 100.49 - 100.53 Mb	Chr X: 129.89 - 129.93 Mb
Pubmed search	[1]	[2]

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.

Automatic update 1