RPH3L Rabbit Polyclonal Antibody, 100ul sgRNA Library Construction Mutations in RPS19 cause Diamond-Blackfan

Mutations in RPS19 cause Diamond-Blackfan anemia (DBA)

This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1

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Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes

The 96 kDa nucleoporin is a scaffold component of the NPC

RPH3L Rabbit Polyclonal Antibody, 100ul sgRNA Library Construction Mutations in RPS19 cause Diamond-BlackfanThe 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.