| 词条 | NBEAL2 |
| 释义 |
FunctionThe 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 relevanceMutation in this gene have been shown to cause gray platelet syndrome.[2] References1. ^1 {{cite web | title = Entrez Gene: Neurobeachin-like 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=23218| accessdate = 2011-12-30 }} 2. ^{{cite journal |vauthors=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 | title = Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome | journal = Nat. Genet. | volume = 43 | issue = 8 | pages = 735–7 |date=August 2011 | pmid = 21765411 | doi = 10.1038/ng.885 | url = | pmc=3428934}} Further reading
| last1 = So | first1 = H. C. | last2 = Fong | first2 = P. Y. | last3 = Chen | first3 = R. Y. L. | last4 = Hui | first4 = T. C. K. | last5 = Ng | first5 = M. Y. M. | last6 = Cherny | first6 = S. S. | last7 = Mak | first7 = W. W. M. | last8 = Cheung | first8 = E. F. C. | last9 = Chan | first9 = R. C. K. | last10 = Chen | doi = 10.1002/ajmg.b.30961 | first10 = E. Y. H. | last11 = Li | first11 = T. | last12 = Sham | first12 = P. C. | title = Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population | journal = American Journal of Medical Genetics Part B | volume = 153B | issue = 1 | pages = 103–113 | year = 2009 | pmid = 19367581 }}
| last1 = Albers | first1 = C. A. | last2 = Cvejic | first2 = A. | last3 = Favier | first3 = R. M. | last4 = Bouwmans | first4 = E. E. | last5 = Alessi | first5 = M. C. | last6 = Bertone | first6 = P. | last7 = Jordan | first7 = G. | last8 = Kettleborough | first8 = R. N. W. | last9 = Kiddle | first9 = G. | last10 = Kostadima | doi = 10.1038/ng.885 | first10 = M. | last11 = Read | first11 = R. J. | last12 = Sipos | first12 = B. | last13 = Sivapalaratnam | first13 = S. | last14 = Smethurst | first14 = P. A. | last15 = Stephens | first15 = J. | last16 = Voss | first16 = K. | last17 = Nurden | first17 = A. | last18 = Rendon | first18 = A. | last19 = Nurden | first19 = P. | last20 = Ouwehand | first20 = W. H. | title = Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome | journal = Nature Genetics | volume = 43 | pmc = 3428934 | issue = 8 | pages = 735–737 | year = 2011 | pmid = 21765411 }}{{refend}}{{NLM content}}{{gene-3-stub}} |
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