Article
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.
The Journal of clinical investigation - 15 Dec 1998
Tanphaichitr V S, Sumboonnanonda A, Ideguchi H, Shayakul C, Brugnara C, Takao M, Veerakul G, Alper S L
Abstract excerpt
The AE1 gene encodes band 3 Cl-/HCO3- exchangers that are expressed both in the erythrocyte and in the acid-secreting, type A intercalated cells of the kidney. Kidney AE1 contributes to urinary acidification by providing the major exit route for HCO3- across the basolateral membrane. Several AE1...
Topics
- Acidosis, Renal Tubular
- Animals
- Anion Exchange Protein 1, Erythrocyte
- Antiporters
- Child, Preschool
- Chloride-Bicarbonate Antiporters
- DNA Mutational Analysis
- Erythrocytes
- Female
- Fluorescent Antibody Technique
- Gene Expression
- Genes, Recessive
- Glycophorins