Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis

Biochemical Journal

Volumn 426, Issue 3, 2010, Pages 379-388

  Chu, Carmen ^a   Woods, Naomi ^a   Sawasdee, Nunghathai ^b   Guizouarn, Helene ^c   Pellissier, Bernard ^c   Borgese, Franck ^c   Yenchitsomanus, Pa Thai ^b   Gowrishankar, Manjula ^a   Cordat, Emmanuelle ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

^b MAHIDOL UNIVERSITY   (Thailand)

^c UNIVERSITÉ CÔTE D'AZUR   (France)

Author keywords

Anion exchanger 1 (AE1); Hereditary disease; Kidney; Membrane protein; Red blood cell; Trafficking

Indexed keywords

ANION EXCHANGER 1 (AE1); ANION EXCHANGERS; BLOOD TRANSFUSION; CELL SURFACES; CO-EXPRESSION; ENDOPLASMIC RETICULUM; HETERODIMERS; INTRACELLULAR RETENTION; KIDNEY CELLS; MEMBRANE PROTEINS; METABOLIC ACIDOSIS; RED BLOOD CELL; RENAL STONES;

BIOLOGICAL MEMBRANES; CELL CULTURE; CELLS; ENCODING (SYMBOLS); GENE ENCODING; HEMOGLOBIN OXYGEN SATURATION; ION EXCHANGE RESINS; IONS; PROTEINS;

BLOOD;

ADULT; ANION EXCHANGE; ANION EXCHANGER 1; ARTICLE; BAND 3 EDMONTON I; CASE REPORT; CELL MIGRATION; ENDOPLASMIC RETICULUM; FEMALE; GOLGI COMPLEX; HETEROZYGOTE; HUMAN; HUMAN CELL; KIDNEY CELL; KIDNEY TUBULE ACIDOSIS; MALE; MUTANT; MUTATION; PRIORITY JOURNAL; SPHEROCYTOSIS; ANIMAL; CELL LINE; CYTOLOGY; FAMILY HEALTH; GENETICS; GENOTYPE; HEREDITARY SPHEROCYTOSIS; METABOLISM; NUCLEOTIDE SEQUENCE; OOCYTE; PATHOLOGY; PEDIGREE; XENOPUS;

ERYTHROCYTE BAND 3 PROTEIN; SLC4A1 PROTEIN, HUMAN;

ACIDOSIS, RENAL TUBULAR; ANIMALS; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; BASE SEQUENCE; CELL LINE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION; OOCYTES; PEDIGREE; SPHEROCYTOSIS, HEREDITARY; XENOPUS; YOUNG ADULT;

EID: 77951929674     PISSN: 02646021     EISSN: 14708728     Source Type: Journal    
DOI: 10.1042/BJ20091525     Document Type: Article

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