[HTML][HTML] Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1)
S Kittanakom, E Cordat, V Akkarapatumwong… - Journal of Biological …, 2004 - ASBMB
Autosomal dominant and recessive distal renal tubular acidosis (dRTA) can be caused by
mutations in the anion exchanger 1 (AE1 or SLC4A1) gene, which encodes the erythroid
chloride/bicarbonate anion exchanger membrane glycoprotein (eAE1) and a truncated
kidney isoform (kAE1). The biosynthesis and trafficking of kAE1 containing a novel recessive
missense dRTA mutation (kAE1 S773P) was studied in transiently transfected HEK-293
cells, expressing the mutant alone or in combination with wild-type kAE1 or another …
mutations in the anion exchanger 1 (AE1 or SLC4A1) gene, which encodes the erythroid
chloride/bicarbonate anion exchanger membrane glycoprotein (eAE1) and a truncated
kidney isoform (kAE1). The biosynthesis and trafficking of kAE1 containing a novel recessive
missense dRTA mutation (kAE1 S773P) was studied in transiently transfected HEK-293
cells, expressing the mutant alone or in combination with wild-type kAE1 or another …