Neurobeachin-like protein 2 (NBEAL2)

Neurobeachin-like protein 2 (NBEAL2) is a large cytoplasmic protein belonging to the BEACH (Beige and Chediak-Higashi) domain-containing family, sharing similarity with other granule trafficking regulators such as LYST and LRBA[2][5]. NBEAL2 regulates the biogenesis of α-granules in megakaryocytes and platelets, maintains secretory granule integrity in other hematopoietic lineages, and is required for normal protein homeostasis in mast cells[1][3][5]. Loss-of-function mutations in NBEAL2 cause Gray platelet syndrome, a recessive bleeding disorder characterized by the absence of platelet α-granules, macrothrombocytopenia, and progressive bone marrow fibrosis[2][4]. NBEAL2 also interacts with important intracellular partners, including RPS6, Dock7, Sec16a, and Vac14, and plays a role in immune cell signaling and possibly autoimmunity via interactions with CTLA-4[1][4][5]. To date, NBEAL2 is not known to be a direct therapeutic target, and no drugs are currently developed to modulate its function.

Other names

Neurobeachin-like protein 2NBEAL2KIAA0540UNQ253/PRO290BDPLT4GPS