Products

Qualitative

Entrez GeneID

Protein Accession#

Gene Name

BLNK

Gene Alias

BASH, BLNK-S, LY57, MGC111051, SLP-65, SLP65

Gene Description

B-cell linker

Omim ID

Gene Ontology

Gene Summary

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 encoding different isoforms have been found for this gene. [provided by RefSeq

Other Designations

B cell linker protein|B-cell adapter containing a SH2 domain protein|B-cell adapter containing a Src homology 2 domain protein|OTTHUMP00000020167|Src homology 2 domain-containing leukocyte protein of 65 kDa