| Protein Name | B cell linker |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 29760 |
| Gene Symbol | BLNK |
| UniProt | Q8WV28 (BLNK_HUMAN), Q2MD59 (Q2MD59_HUMAN), Q2MD54 (Q2MD54_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
104
Total Number of Articles : 93 |
Description |
B cell linker |
| 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 have been found for this gene. [provided by RefSeq, May 2012] |
| synonyms |
|
| Properties | |