Inherited disorders of ion transport in the intestine.
Within the past year, it has been established that the gene mutated in the human disorder congenital chloride diarrhea encodes a major Cl-/HCO3- exchanger at the apical membrane of gut epithelial cells. A major apical Na+/H+ exchanger has also been identified. New insight into metal ion absorption has been gained, and several new transporters without cognate diseases have been cloned.
Kere
J
J
Finnish Genome Center, PO Box 21 (Tukholmankatu 2), 00014 University of Helsinki, Finland. juha.kere@helsinki.fi
Höglund
P
P
D000818:Animals; D017920:Antiporters / Q000235:genetics*; D001639:Bicarbonates / Q000378:metabolism; D027963:Chloride-Bicarbonate Antiporters; D002712:Chlorides / Q000378:metabolism; D006432:Hemochromatosis / Q000235:genetics; D006801:Humans; D007408:Intestinal Absorption / Q000235:genetics*; D007410:Intestinal Diseases / Q000235:genetics* / Q000503:physiopathology*; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics; D017923:Sodium-Hydrogen Exchangers / Q000235:genetics*
D017920:Antiporters; D001639:Bicarbonates; D027963:Chloride-Bicarbonate Antiporters; D002712:Chlorides; D017923:Sodium-Hydrogen Exchangers