NBEAL2
Neurobeachin-like 2 is a protein that in humans is encoded by the NBEAL2 gene.[1]
Function
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.[1]
Clinical relevance
Clinical relevance
Mutation in this gene have been shown to cause gray platelet syndrome.[2]
References
References
- ↑ 1.0 1.1 “Entrez Gene: Neurobeachin-like 2”. Retrieved 2011-12-30.
- ↑ Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH (August 2011). “Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome”. Nat. Genet. 43 (8): 735–7. doi:10.1038/ng.885. PMC 3428934. PMID 21765411.
Further reading
Further reading
- 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.
- 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.
Looking for the patient version?
© 2026 MyEClinic – IFTM Institut für Telematik in der Medizin GmbH