Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
Expressed in the cochlea and endolymphatic sac.
Involvement in disease
Defects in ATP6V1B1 are the cause of distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]. Inheritance is autosomal recessive. Patients with recessive dRTA are severely affected, presenting with either acute illness or growth failure at a young age, and bilateral sensorineural deafness. Other features include low serum K(+) due to renal potassium wasting, and elevated urinary calcium. If untreated, this acidosis may result in dissolution of bone, leading to osteomalacia and rickets. Renal deposition of calcium salts (nephrocalcinosis) and renal stone formation commonly occur.
Belongs to the ATPase alpha/beta chains family.
The PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7.