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GENATLAS PHENOTYPE
last update : 26/06/2006
Symbol DRTAA
Location 17q21-q22
Name renal tubular acidosis, distal
Other name(s) RTA, classic, gradient type
Corresponding gene SLC4A1
Other symbol(s) RTA
Main clinical features
  • an inadequate urinary secretion resulting in alkaline pH in presence of metabolic acidosis . associated with hypokalemia hypercalciuria and when untreated nephrocalcinosis and usually mild metabolic bone disease and normal red cells, in relation with disorder of epithelial polarity
    • Genetic determination autosomal dominant
    autosomal recessive
    Related entries including autosomal recessive forms (OMIM 602722)
    Function/system disorder kidney and urinary tract
    Type disease
    Gene product
    Name anion exchange member 1 (SLC4A1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     G609R, detected subapically and at the apical membrane, as well as at the basolateral membrane, in contrast to the normal basolateral appearance of wild-type
    missense     S773P mutant showed increased sensitivity to proteases, suggesting that it was not properly folded, and predominant endoplasmic reticulum immunolocalization in embryonic kidney