The NBEAL2 gene provides instructions for making a protein whose function is unclear. The protein appears to be critical for the normal development of platelets, which are small blood cells involved in blood clotting.
Platelets are produced in bone marrow, the spongy tissue in the center of long bones that produces most of the blood cells the body needs. Platelets are formed from large precursor cells known as megakaryocytes. Within these cells, the NBEAL2 protein is thought to play a role in the development of sacs called alpha-granules, which are the most abundant components of platelets. Alpha-granules contain growth factors and other proteins that are important for blood clotting and wound healing. In response to an injury that causes bleeding, the proteins stored in alpha-granules help platelets stick to one another to form a plug that seals off damaged blood vessels and prevents further blood loss.
Other Names
BDPLT4; GPS; KIAA0540; neurobeachin-like 2; neurobeachin-like protein 2
Related Genetics Topics
Identifiers
- NCBI Gene: 23218
- OMIM: 614169
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
