Genetic causes and mechanisms of distal renal tubular acidosis.
In Nephrol Dial Transplant, 2012
Mutations in ATP6V1B1, encoding the B-subtype unit of the apical H(+) ATPase, and ATP6V0A4, encoding the a-subtype unit, lead to the loss of function of the apical H(+) ATPase and are usually responsible for patients with autosomal recessive dRTA often associated with early or late sensorineural deafness.
[Primary distal renal tubular acidosis].
Tunisia. In Ann Biol Clin (paris), 2009
Also, mutations in ATP6V0A4 gene encode the accessory subunit a4 of the H+ATPase, leading to recessive forms of dRTA with preserved hearing or delayed signs of deafness.
Renal vacuolar H+-ATPase.
Zürich, Switzerland. In Physiol Rev, 2004
The importance in final urinary acidification along the collecting system is highlighted by monogenic defects in two subunits (ATP6V0A4, ATP6V1B1) of the vacuolar H(+)-ATPase in patients with distal renal tubular acidosis.
Evidence for a conserved 95-120 kDa subunit associated with and essential for activity of V-ATPases.
Pittsburgh, United States. In J Exp Biol, 1992
Vph1p has 42% identity to the 116 kDa polypeptide of the rat clathrin-coated vesicles/synaptic vesicle proton pump, 42% identity to the TJ6 mouse immune suppressor factor, 42% identity to the Caenorhabditis elegans proton pump homologue and 54% identity to the predicted polypeptide encoded by the yeast gene STV1 (Similar To VPH1, identified as an open reading frame next to the BUB2 gene.