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Mutations in RPS19 cause Diamond-Blackfan anemia (DBA)

The protein encoded by this gene is a member of the Borg (binder of Rho GTPases) family of CDC42 effector proteins

This protein has been found to bind Opa protein| a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells| suggesting a role of this protein in bacterial pathogenesis

The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response

RPH3L Rabbit Polyclonal Antibody, 100ul sgRNA Library Construction Unleash your daring side andThe protein encoded by this gene plays a direct regulatory role in calcium ion dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms.