ER-associated degradation pathway protein SEL1L plays an evolutionarily conserved role in platelet adhesion - PubMed
7 days ago
- #Genetic Disorders
- #Platelet Function
- #ERAD Pathway
- SEL1L, a protein in the ER-associated degradation (ERAD) pathway, regulates platelet function.
- A missense variant in SEL1L (c.1810A>G p.Ile604Val) is linked to Atypical Equine Thrombasthenia (AET) in horses, causing decreased protein expression.
- SEL1L localizes to the platelet surface upon activation with thrombin and is necessary for platelet spreading on collagen.
- Human megakaryocytes express two SEL1L isoforms, with only one delivered to mature platelets.
- Mouse and zebrafish knockout studies show SEL1L is essential for platelet/thrombocyte adhesion to endothelial injury sites.
- The findings suggest a conserved role for the ERAD pathway in platelet disorders, potentially relevant to human conditions.