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BTK

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]
Protein class

Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (granulocytes, B-cells, monocytes, Kupffer cells, Macrophages, Hofbauer cells, Plasma cells)

Immune cell specificity

Immune cell enriched (basophil)

Cell line specificity

Cell line enhanced (Daudi, HEL, HMC-1, U-937)

Interaction

Binds GTF2I through the PH domain. Interacts with SH3BP5 via the SH3 domain. Interacts with IBTK via its PH domain. Interacts with ARID3A, CAV1, FASLG, PIN1, TLR8 and TLR9.

Molecular function

Kinase, Transferase, Tyrosine-protein kinase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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