Literature associating SNX19 and Johanson-Blizzard syndrome
Sorting nexin 19; Plays a role in intracellular vesicle trafficking and exocytosis. May play a role in maintaining insulin-containing dense core vesicles in pancreatic beta-cells and in preventing their degradation. May play a role in insulin secretion. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) (By similarity); Belongs to the sorting nexin family.
Synonyms: SNX19, SNX19p, hSNX19, E7ERC7, E9PJV7 ...