Point mutations in the ileal bile salt transporter cause leaks in the enterohepatic circulation leading to severe chronic diarrhea and malabsorption.
Small
D M
DM
D000818:Animals; D001647:Bile Acids and Salts / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D003967:Diarrhea / Q000209:etiology* / Q000235:genetics / Q000378:metabolism; D004764:Enterohepatic Circulation / Q000235:genetics* / Q000502:physiology; D006801:Humans; D007082:Ileum / Q000378:metabolism; D008286:Malabsorption Syndromes / Q000209:etiology* / Q000235:genetics / Q000378:metabolism; D029363:Organic Anion Transporters, Sodium-Dependent; D010641:Phenotype; D017354:Point Mutation; D027981:Symporters
D001647:Bile Acids and Salts; D002352:Carrier Proteins; D029363:Organic Anion Transporters, Sodium-Dependent; D027981:Symporters; C071908:sodium-bile acid cotransporter