Entrez 23218 | Ensembl ENSG00000160796 | |
Aliases NBEAL2, BDPLT4, GPS, neurobeachin like 2 External IDs MGI: 2448554 HomoloGene: 86422 GeneCards: NBEAL2 | ||
Function
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.
Clinical relevance
Mutation in this gene have been shown to cause gray platelet syndrome.
References
NBEAL2 Wikipedia(Text) CC BY-SA