Anti-NBEAL2 antibody [EPR14501(B)] - N-terminal

Supplementary information

This supplementary information is collated from multiple sources and compiled automatically.

The NBEAL2 protein also known as Neurobeachin-like 2 functions as a large protein with a mass of approximately 304 kDa. It has an important role in vesicle-mediated transport within cells. NBEAL2 is expressed mostly in hematopoietic tissues including bone marrow and peripheral blood. The protein structure includes a BEACH domain WD repeats and a leucine zipper motif which contribute to its involvement in cellular trafficking processes.

Biological function summary

The NBEAL2 protein plays an important role in platelet formation and maintenance. It appears necessary for the development of α-granules in platelets which are essential for proper blood clotting. These α-granules store numerous proteins such as clotting factors that are important in hemostasis. While NBEAL2 does not form its own complex it interacts with various cellular machinery involved in vesicle trafficking.

Pathways

NBEAL2 serves as a critical component in pathways regulating platelet production and release. Its functions intersect with the megakaryocyte development pathway an essential pathway for platelet biogenesis. NBEAL2 shows close interaction with proteins like WASP which also contribute to thrombopoiesis. Its activity ensures the proper formation and function of platelet precursor cells.

Several findings connect the NBEAL2 protein to gray platelet syndrome (GPS). GPS is a rare bleeding disorder characterized by the deficiency or absence of α-granules in platelets. Mutations in NBEAL2 are frequently linked to the development of this syndrome. Moreover the protein's role in platelet function also ties it to potential contributions in disorders related to thrombosis. Understanding NBEAL2's interactions especially with other proteins involved in platelet formation like MYH9 offers further insights into its implications in hematological conditions.