Work

Defective Urinary Concentrating Ability Due to a Complete Deficiency of Aquaporin-1

Year: 2001

Type: article

Abstract: Aquaporin-1, the archetypal water-channel protein,1 was initially identified in red cells and renal proximal tubular epithelium.2 The gene for aquaporin-1 (AQP1) on chromosome 7 colocalizes with the Colton blood-group antigen,3,4 and the Colton blood-group antigen polymorphism was identified as a substitution of a single amino acid in an extracellular domain of aquaporin-1.5 The International Blood Group Reference Laboratory has confirmed the existence of only six kindreds who lack the Colton blood group. Members of three of these kindreds were found to be homozygous for different mutations in the AQP1 gene, and their red-cell membranes had a complete . . .

Source: New England Journal of Medicine

DOI: 10.1056/nejm200107193450304

Authors: Landon S. King, Michael Choi, Pedro C. Fernandez, Jean-Pierre Cartron, Peter Agre

Institutions: Johns Hopkins University, Johns Hopkins Medicine, University of Pennsylvania, Inserm

Language: English

Topic: Ion Transport and Channel Regulation

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Center for Research Resources