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The protein encoded by NBEAL2 contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Additionally we are shipping NBEAL2 Antibodies (20) and many more products for this protein.
we herein show a long-distance regulatory region with GATA1 (show GATA1 ELISA Kits) binding sites as being a strong enhancer for NBEAL2 expression.
NBEAL2 mutation is associated with gray platelet syndrome.
Mutations in NBEAL2, encoding a BEACH protein is associated with gray platelet syndrome.
Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice
NBEAL2 is required for normal platelet function and megakaryocyte development.
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome.
, neurobeachin-like protein 2
, Neurobeachin-like protein 2