Article
Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions.
The Journal of biological chemistry - 22 Oct 2010
Patterson Sian T, Reithmeier Reinhart A F
Abstract excerpt
Mutations in the human kidney anion exchanger 1 (kAE1) membrane glycoprotein cause impaired urine acidification resulting in distal renal tubular acidosis (dRTA). Dominant and recessive dRTA kAE1 mutants exhibit distinct trafficking defects with retention in the endoplasmic reticulum (ER), Golgi, or mislocalization to the apical membrane in polarized epithelial cells. We examined the interaction of kAE1 with the...
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