CD2BP2 Polyclonal Antibody, 50ul ROS/Nitric Oxide Detection Mutations in this gene result

Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease

|disease:Defects in CTSC are a cause of Haim-Munk syndrome (HMS)

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Activating mutations in this gene are a common cause of congenital hyperinsulinism

They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens

CD2BP2 Polyclonal Antibody, 50ul ROS/Nitric Oxide Detection Mutations in this gene resultCD2BP2 encodes a bi functional protein (CD2 cytoplasmic tail binding protein 2). In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C terminal GYF domain, and regulate CD2 triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing