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

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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 43 Issue: 8
  • Publication Date: 2011
  • Doi Number: 10.1038/ng.883
  • Title of Journal : NATURE GENETICS
  • Page Numbers: pp.732-734


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.