This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene.
Function
SH3/SH2 adaptor activity; SH3/SH2 adaptor activity; protein binding; transmembrane receptor protein tyrosine kinase adaptor activity;
Synonyms
BLNK; B-cell linker; B-cell linker protein; B cell adaptor containing SH2 domain; B cell activation; B cell adapter containing a SH2 domain protein; BASH; bca; BLNK s; Ly57; SLP 65; SLP65; Src homology [SH2] domain containing leukocyte protein of 65 kD; B-cell activation; B cell linker protein; cytoplasmic adapter protein; B-cell adapter containing a SH2 domain protein; B-cell adapter containing a Src homology 2 domain protein; Src homology 2 domain-containing leukocyte protein of 65 kDa; Src homology [SH2] domain-containing leukocyte protein of 65 kD; AGM4; LY57; BLNK-S; SLP-65; MGC111051;
Citations
Publication ()
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