NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules

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Gunay-Aygun M., Falik-Zaccai T. C., Vilboux T., Zivony-Elboum Y., Gumruk F., Cetin M., ...More

NATURE GENETICS, vol.43, no.8, pp.732-734, 2011 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 43 Issue: 8
  • Publication Date: 2011
  • Doi Number: 10.1038/ng.883
  • Journal Name: NATURE GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.732-734
  • Open Archive Collection: AVESIS Open Access Collection
  • Hacettepe University Affiliated: Yes

Abstract

Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack alpha-granules. Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS express a unique combination of NBEAL2 transcripts. Proteomic analysis of sucrose-gradient subcellular fractions of platelets indicated that NBEAL2 localizes to the dense tubular system (endoplasmic reticulum) in platelets.