NBEAL2 explained

Neurobeachin-like 2 is a protein that in humans is encoded by the NBEAL2 gene.^[1]

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

Mutation in this gene have been shown to cause gray platelet syndrome.^[2]

Further reading

• So HC, Fong PY, Chen RY, Hui TC, Ng MY, Cherny SS, Mak WW, Cheung EF, Chan RC, Chen EY, Li T, Sham PC . 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, Neuropsychiatric Genetics . 153B . 1 . 103–113 . January 2010 . 19367581 . 10.1002/ajmg.b.30961 . 20522961 .
• 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 . Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome . Nature Genetics . 43 . 8 . 735–737 . July 2011 . 21765411 . 3428934 . 10.1038/ng.885 .

Notes and References

1. Web site: Entrez Gene: Neurobeachin-like 2. 2011-12-30 .
2. 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 . Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome . Nature Genetics . 43 . 8 . 735–737 . July 2011 . 21765411 . 3428934 . 10.1038/ng.885 .