Norgett et al. have found that a novel genomic deletion at 2p13.3 encompassing all of ATP6V1B1 and part of VAX2 cause distal Renal Tubular Acidosis, which indicates that VAX2 may be associated with distal Renal Tubular Acidosis [19]. Here, ATP6V1B1 is linked to distal renal tubular acidosis.