Document Detail

Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis.
MedLine Citation:
PMID:  12539048     Owner:  NLM     Status:  MEDLINE    
Autosomal dominant distal renal tubular acidosis (ddRTA) is caused by mutations in SLC4A1, which encodes the polytopic chloride-bicarbonate exchanger AE1 that is normally expressed at the basolateral surface of alpha-intercalated cells in the distal nephron. Here we report that, in contrast with many disorders in which mutant membrane proteins are retained intracellularly and degraded, ddRTA can result from aberrant targeting of AE1 to the apical surface.
Mark A J Devonald; Annabel N Smith; Jenny P Poon; Gudrun Ihrke; Fiona E Karet
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2003-01-21
Journal Detail:
Title:  Nature genetics     Volume:  33     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  2003 Feb 
Date Detail:
Created Date:  2003-01-31     Completed Date:  2003-03-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  125-7     Citation Subset:  IM    
Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke's Hospital Box 139, Cambridge CB2 2XY, UK.
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MeSH Terms
Acidosis, Renal Tubular / genetics*,  metabolism
Anion Exchange Protein 1, Erythrocyte / genetics*,  metabolism
Antigens, CD8 / immunology
Cadherins / metabolism
Cells, Cultured
Epithelial Cells / cytology,  metabolism*
Genes, Dominant*
Hemagglutinins / immunology
Kidney / metabolism
Peptide Fragments / metabolism
Protein Transport / physiology*
Reg. No./Substance:
0/Anion Exchange Protein 1, Erythrocyte; 0/Antigens, CD8; 0/Cadherins; 0/Hemagglutinins; 0/Peptide Fragments

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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