EC Number   |
General Information |
Reference |
|---|
   2.7.10.2 | drug target |
SYK and its downstream signaling components represent promising novel therapeutic targets in chronic recurrent multifocal osteomyelitis (CRMO) |
761520 |
| 2.7.10.2 | drug target |
the enzyme (BTK) is closely associated with the pathogenesis and development of various B-cell malignancies and autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosis, multiple sclerosis, B-cell lymphomas and leukemias, such as mantle cell lymphoma and chronic lymphocytic leukemia. Therefore, BTK has been considered as a potential therapeutic target for treating these diseases |
760693 |
| 2.7.10.2 | malfunction |
deficiency of Jak3 or Tyk2 results in defined clinical disorders, a striking phenotype associated with inactivating Jak3 mutations is severe combined immunodeficiency syndrome, whereas mutation of Tyk2 results in autosomal recessive hyperimmunoglobulin E syndrome, complete deletion of Jak1 or Jak2 in the mouse are not compatible with life and do not have counterparts in human disease. Activating mutations of each of the Jaks are found in association with malignant transformation, the most common being gain-of-function mutations of Jak2 in polycythemia vera and other myeloproliferative disorders. |
703985 |
| 2.7.10.2 | malfunction |
deficiency of Jak3 or Tyk2 results in defined clinical disorders, a striking phenotype associated with inactivating Jak3 mutations is severe combined immunodeficiency syndrome, whereas mutation of Tyk2 results in autosomal recessive hyperimmunoglobulin E syndrome, complete deletion of Jak1 or Jak2 in the mouse are not compatible with life and do not have counterparts in human disease. Activating mutations of each of the Jaks are found in association with malignant transformation, the most common being gain-of-function mutations of Jak2 in polycythemia vera and other myeloproliferative disorders. Jak1 knockout mice have major deficits in lymphopoiesis and a failure to respond to signals from class II cytokine receptors, gammac cytokine receptors, and cytokine receptors that contain the gp130 subunit. Jak2 deficiency is lethal. |
703985 |
| 2.7.10.2 | malfunction |
enzyme loss causes a reduction in ring canal diameter within germline cysts |
738743 |
| 2.7.10.2 | malfunction |
enzyme-deficiency leads to a reduction in mature peripheral B cells. Enzyme-deficient mice fail to respond to immunization with type 2 thymus-independent antigens, and accordingly, peripheral B cells from these animals are unresponsive to B cell receptor crosslinking |
738822 |
| 2.7.10.2 | malfunction |
increased numbers of megakaryocytes are detected in the spleens and bone marrow of Abl gene conditional knockout mice |
760640 |
| 2.7.10.2 | malfunction |
mutations of JAK3 may be a cause of severe combined immunodeficiency |
703984 |
| 2.7.10.2 | malfunction |
mutations of JAK3 may be a cause of severe combined immunodeficiency, JAK3 knockout mice have a profound reduction in thymic progenitor cells and reduced ability to reconstitute T cell development, in the periphery, CD8+ T and NK cells are severely reduced. JAK3- (and gamma chain) deficient mice also have severely defective B cell development, deficiency of JAK1 and JAK2 is lethal |
703984 |
| 2.7.10.2 | malfunction |
only 75% of ABL1 knockout mice survive the first week,33 the remaining animals show severe defects in spermatogenesis, thymic and splenic atrophy, susceptibility to infections and reductions of T- and B-cell lymphocytes and their early precursors in lymphoid organs |
705448 |
