A Novel Missense Mutation in AE1 Causing Autosomal Dominant Distal Renal Tubular Acidosis Retains Normal Transport Function but Is Mistargeted in Polarized Epithelial Cells

• Main Authors: Nanyawan Rungroj, Mark A.J. Devonald, Alan W. Cuthbert, Frank Reimann, Varaporn Akkarapatumwong, Pa Thai Yenchitsomanus, William M. Bennett, Fiona E. Karet
• Other Authors: University of Cambridge
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/21201
• Institution: Mahidol University

Mutations in SLC4A1, encoding the chloride-bicarbonate exchanger AE1, cause distal renal tubular acidosis (dRTA), a disease of defective urinary acidification by the distal nephron. In this study we report a novel missense mutation, G609R, causing dominant dRTA in affected members of a large Caucasi...