EC Number   |
General Information |
Reference |
|---|
   2.7.11.30 | malfunction |
association of ACVRL1 mutations with a vascular disease, familial pulmonary artery hypertension |
705441 |
| 2.7.11.30 | malfunction |
hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) is an autosomal dominant disorder which is clinically characterised by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations, genetic linkage studies identify 2 genes primarily related to hereditary hemorrhagic telangiectasia: endoglin and activin receptor-like kinase 1, 10 different ACVRL1 mutations can be identified in 12 out of 41 hereditary hemorrhagic telangiectasia patients, including 2 deletions, 2 insertions, 1 splice site mutation and 5 missense mutations |
702898 |
| 2.7.11.30 | malfunction |
mutations in the TGF-type I receptor, activin receptor-like kinase (ALK)-1, cause hereditary hemorrhagic telangiectasia but have also been found in some cases of severe pulmonary arterial hypertension |
703244 |
| 2.7.11.30 | malfunction |
mutations in transforming growth factor-beta (TGF-beta) receptor superfamily members underlie conditions characterized by vascular dysplasia |
704485 |
| 2.7.11.30 | malfunction |
reduction in SMAD7 can lead to increased sensitivity to suppressive effects of TGF-beta on hematopoiesis. SMAD7, a negative regulator of TGF-beta receptor I (TBRI) kinase is markedly decreased in a large meta-analysis of gene expression studies from myelodysplastic syndrome marrow derived CD34+ cells, SMAD7 protein is also significantly decreased in myelodysplastic syndrome marrow progenitors. The increased TGF-beta signaling due to SMAD7 reduction can be effectively inhibited by TBRI (ALK5 kinase) inhibitor LY-2157299 |
740256 |
| 2.7.11.30 | physiological function |
activin receptor-like-kinase 1 is a receptor for ligands of the transforming growth factor-beta family |
705441 |
| 2.7.11.30 | physiological function |
GsSRK, a G-type lectin S-receptor-like serine/threonine protein kinase, is a positive regulator of plant tolerance to salt stress. GsSRK might be involved also in drought, and possibly other osmotic stress signaling transduction |
740900 |
| 2.7.11.30 | physiological function |
isoforms RIPK1 and RIPK3 are involved in the injury process of chicken lungs after infection with Pasteurella multocida. The proinflammatory response involving isoforms RIPK1 and RIPK3 suggests histopathological changes associated with heterophilic granulocytes that are associated with host response to Pasteurella multocida infection in the lung |
762408 |
| 2.7.11.30 | physiological function |
SMAD7 is a negative regulator of TGF-beta receptor I (TBRI) kinase. The enzyme increases Smad7 via increased TGF-beta signaling |
740256 |
| 2.7.11.30 | physiological function |
the enzyme is involved in immune response and the activation of the nuclear factor-kappaB signaling pathways |
761110 |
