Gene Symbol | NBEAL2 |
Entrez Gene ID | 23218 |
Full Name | neurobeachin like 2 |
Synonyms | BDPLT4,GPS |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Gray platelet syndrome, 139090 (3) |