NBEAL2 neurobeachin like 2 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 23218)
Source: NCBI Gene (ID 23218)
Symbol: NBEAL2
Full name: neurobeachin like 2
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: BDPLT4; GPS
Summary: 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. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
Expression: Broad expression in bone marrow (RPKM 26.4), esophagus (RPKM 17.9) and 23 other tissues
Orthologs: mouse
Gene size: 30036bp
Exon count: 57