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 Myh-9 Related Disease. 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.