Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet 2011 Jul 17;43(8):738-40
Date
07/19/2011Pubmed ID
21765413Pubmed Central ID
PMC6050511DOI
10.1038/ng.884Scopus ID
2-s2.0-79960903114 (requires institutional sign-in at Scopus site) 238 CitationsAbstract
Next-generation RNA sequence analysis of platelets from an individual with autosomal recessive gray platelet syndrome (GPS, MIM139090) detected abnormal transcript reads, including intron retention, mapping to NBEAL2 (encoding neurobeachin-like 2). Genomic DNA sequencing confirmed mutations in NBEAL2 as the genetic cause of GPS. NBEAL2 encodes a protein containing a BEACH domain that is predicted to be involved in vesicular trafficking and may be critical for the development of platelet α-granules.
Author List
Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola JMESH terms used to index this publication - Major topics in bold
Amino Acid SequenceBase Sequence
Blood Platelets
Blood Proteins
Cytoplasmic Granules
Female
Gray Platelet Syndrome
Humans
Male
Molecular Sequence Data
Nerve Tissue Proteins
Pedigree
Phylogeny
Sequence Analysis, DNA
Sequence Homology, Amino Acid
Sequence Homology, Nucleic Acid