γ-COPI mediates the retention of kAE1 G701D protein in Golgi apparatus - a mechanistic explanation of distal renal tubular acidosis associated with the G701D mutation.

Abstract

Mutations of the solute carrier family 4 member 1 (SLC4A1) gene encoding kidney anion (chloride/bicarbonate ion) exchanger 1 (kAE1) can cause genetic distal renal tubular acidosis (dRTA). Different SLC4A1 mutations give rise to mutant kAE1 proteins with distinct defects in protein trafficking. The mutant kAE1 protein may be retained in endoplasmic reticulum… (More)
DOI: 10.1042/BCJ20170088

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@article{Duangtum2017COPIMT, title={γ-COPI mediates the retention of kAE1 G701D protein in Golgi apparatus - a mechanistic explanation of distal renal tubular acidosis associated with the G701D mutation.}, author={Natapol Duangtum and Mutita Junking and Suratchanee Phadngam and Nunghathai Sawasdee and Andrea Castiglioni and Komgrid Charngkaew and Thawornchai Limjindaporn and Ciro Isidoro and Pa-Thai Yenchitsomanus}, journal={The Biochemical journal}, year={2017}, volume={474 15}, pages={2573-2584} }