Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 10/11/2006
Symbol DRTAB1
Location 2p13
Name distal renal tubular acidosis, 1
Other name(s) renal tubular acidosis with progressive nerve deafness
Corresponding gene ATP6V1B1
Other symbol(s) DRTA
Main clinical features
  • severe, characterized by an inadequate urinary H+ secretion resulting in alkaline pH in presence of metabolic acidosis . associated with hypokalemia, nephrocalcinosis and usually mild metabolic bone disease, and with neurosensory deafness
    • Genetic determination autosomal recessive
    Function/system disorder ear
    kidney and urinary tract
    Type disease
    Gene product
    Name ATPase H+ transporting, 6 beta polypeptide 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function several