Novel AE1 mutations in recessive distal renal tubular acidosis. Loss- of-function is rescued by glycophorin A

• Main Authors: Voravarn S. Tanphaichitr, Achra Sumboonnanonda, Hiroshi Ideguchi, Chairat Shayakul, Carlo Brugnara, Mayumi Takao, Gavivann Veerakul, Seth L. Alper
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/18433

The AE1 gene encodes band 3 Cl-/HCO3-exchangers that are expressed both in the erythrocyte and in the acid-secreting, type A intercalated cells of the kidney. Kidney AE1 contributes to urinary acidification by providing the major exit route for HCO3-across the basolateral membrane. Several AE1 mutat...