|SwissProt ID Link
||Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.
||Apical cell membrane; Multi-pass membrane protein. Present at high density almost exclusively on the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron.
|Involvement in Disease
||Renal tubular acidosis, distal, autosomal recessive: An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. The disease is caused by mutations affecting the gene represented in this entry.
||Expressed in adult and fetal kidney. Found in the inner ear.
||The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''.
||Belongs to the V-ATPase 116 kDa subunit family.