Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis

• Main Authors: Duangporn Ungsupravate, Nunghathai Sawasdee, Sookkasem Khositseth, Wandee Udomchaiprasertkul, Siri Khoprasert, Jing Li, Reinhart A.F. Reithmeier, Pa Thai Yenchitsomanus
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/28735

Novel compound heterozygous mutations, G701D, a recessive mutation, and A858D, a mild dominant mutation, of human solute carrier family 4, anion exchanger, member 1 (SLC4A1) were identified in two pediatric patients with distal renal tubular acidosis (dRTA). To examine the interaction, trafficking,...