Protein-coding gene in the species Homo sapiens
Neurobeachin-like 2 is a protein that in humans is encoded by the NBEAL2 gene .[5]
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 .[5]
Clinical relevance
Mutation in this gene have been shown to cause gray platelet syndrome .[6]
So, H. C.; Fong, P. Y.; Chen, R. Y. L.; Hui, T. C. K.; Ng, M. Y. M.; Cherny, S. S.; Mak, W. W. M.; Cheung, E. F. C.; Chan, R. C. K.; Chen, E. Y. H.; Li, T.; Sham, P. C. (2009). "Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population" . American Journal of Medical Genetics Part B . 153B (1): 103–113. doi :10.1002/ajmg.b.30961 . PMID 19367581 . S2CID 20522961 .
Albers, C. A.; Cvejic, A.; Favier, R. M.; Bouwmans, E. E.; Alessi, M. C.; Bertone, P.; Jordan, G.; Kettleborough, R. N. W.; Kiddle, G.; Kostadima, M.; Read, R. J.; Sipos, B.; Sivapalaratnam, S.; Smethurst, P. A.; Stephens, J.; Voss, K.; Nurden, A.; Rendon, A.; Nurden, P.; Ouwehand, W. H. (2011). "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome" . Nature Genetics . 43 (8): 735–737. doi :10.1038/ng.885 . PMC 3428934 . PMID 21765411 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .