Protein products of genes linked to GS disease and their functions in physiology and pathophysiology (IMAGE)
Caption
(A) ABC transporters: The normal functioning of ABCG8/ABCG5, ABCB4, and ABCB11 enables the transport of cholesterol, bile acids, and lipids into bile (left). Mutations in any of these result in increased cholesterol and lipids, while decreasing bile acids in bile, thus precipitating stone formation (right). (B) APO: Apolipoproteins function to stabilize cholesterol-containing vesicles (left). Mutations in apolipoproteins result in less effective binding to their receptors and increased serum cholesterol (right). (C) UGT1A1: uridine 5′-diphospho-glucuronosyltransferase 1A1 conjugates bilirubin through glucuronidation, thereby increasing its solubility in aqueous bile (left). Pathologic mutations result in reduced conjugated bilirubin in bile, leading to an increase in stone formation (right). (D) CFTR: Cystic fibrosis transmembrane conductance regulator facilitates the transport of chloride ions across various cell membranes along with water (left). Mutated CFTR reduces the transport of chloride ions, leading to decreased water content and predisposing to stone formation (right). (E) Mucin mutations: MUC1 and MUC2, transmembrane mucins, regulate the secretion of mucins such as MUC3 and MUC5B (left). Mutations in MUC1 and MUC2, resulting in decreased expression, lead to increased intraluminal mucins (MUC3, MUC5A, MUC5B), precipitating GS formation (right). ABC, ATP-binding cassette; APO, apolipoproteins; UGT1A1, uridine 5′-diphospho-glucuronosyltransferase 1A1; CFTR, cystic fibrosis transmembrane conductance regulator. The figure was created using BioRender.com.
Credit
Christopher J. Costa
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