Aliases for NBEAL2 Gene
External Ids for NBEAL2 Gene
Previous GeneCards Identifiers for NBEAL2 Gene
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. [provided by RefSeq, Dec 2011]
GeneCards Summary for NBEAL2 Gene
NBEAL2 (Neurobeachin Like 2) is a Protein Coding gene. Diseases associated with NBEAL2 include Gray Platelet Syndrome and Arthrogryposis, Renal Dysfunction, And Cholestasis 1. Among its related pathways are Innate Immune System. GO annotations related to this gene include binding and phospholipid binding. An important paralog of this gene is NBEAL1.
UniProtKB/Swiss-Prot for NBEAL2 Gene
Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.