NBEAL2
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Neurobeachin-like 2 is a protein that in humans is encoded by the NBEAL2 gene.[1]
Function
[edit | edit source]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.[1]
Clinical relevance
[edit | edit source]Mutation in this gene have been shown to cause gray platelet syndrome.[2]
References
[edit | edit source]Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.