NBEAL2
Function
Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.
Involvement in disease
Gray platelet syndrome
GPS
A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the WD repeat neurobeachin family.
Tissue Specificity
Expressed in megakaryocytes.
Cellular localization
- Endoplasmic reticulum
Alternative names
KIAA0540, UNQ253/PRO290, NBEAL2, Neurobeachin-like protein 2