NBEAL2

NBEAL2 (Neurobeachin-like 2) is a protein that in humans is encoded by the NBEAL2 gene. It is located on chromosome 3 (3p21.31). Mutations in this gene are associated with Gray Platelet Syndrome (GPS), a rare bleeding disorder.

Function

The NBEAL2 protein is a member of the BEACH-domain family of proteins. The BEACH domain is a conserved sequence found in a wide variety of proteins, and is thought to play a role in vesicle trafficking, cytoskeleton organization, and cell adhesion. The exact function of NBEAL2 is not fully understood, but it is believed to be involved in the formation and function of alpha-granules in platelets.

Clinical significance

Mutations in the NBEAL2 gene are the cause of Gray Platelet Syndrome (GPS), a rare autosomal recessive bleeding disorder characterized by a lack of alpha-granules in platelets, leading to a gray appearance on light microscopy. Patients with GPS have mild to moderate bleeding symptoms, and may also have myelofibrosis and splenomegaly.

Research

Research into the function of NBEAL2 and its role in GPS is ongoing. Understanding the role of this protein in platelet formation and function may lead to new treatments for bleeding disorders.

See also

• BEACH domain
• Gray Platelet Syndrome
• Platelet

References

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