Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis

Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis

Abstract Background Mutations in solute carrier family 4 member 1 (SLC4A1) encoding anion exchanger 1 (AE1) are the most common cause of autosomal recessive distal renal tubular acidosis (AR dRTA) in Southeast Asians. To explain the molecular mechanism of this disease with hematological abnormalitie...

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Main Authors: Nipaporn Deejai, Nunghathai Sawasdee, Choochai Nettuwakul, Wanchai Wanachiwanawin, Suchai Sritippayawan, Pa-thai Yenchitsomanus, Nanyawan Rungroj
Format: Article
Language:English
Published: BMC 2022-10-01
Series:BMC Medical Genomics
Subjects:
SLC4A1
AE1
AR dRTA
Ovalocytosis
Hemolytic anemia
Online Access:https://doi.org/10.1186/s12920-022-01381-y

Internet

https://doi.org/10.1186/s12920-022-01381-y

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