ATP6V0A4 Antibody – Rabbit Polyclonal

ATP6V0A4: Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney. Defects in ATP6V0A4 are the cause of distal renal tubular acidosis with preserved hearing (RTADR). RTADR is an autosomal recessive form of distal renal tubular acidosis (dRTA), a group of disorders characterized by functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. Functional failure of alpha-intercalated cells results in metabolic acidosis accompanied by disturbances of potassium balance, urinary calcium solubility, bone physiology and growth. Belongs to the V-ATPase 116 kDa subunit family.

Protein type: Transporter, iron; Membrane protein, integral; Energy Metabolism - oxidative phosphorylation; Membrane protein, multi-pass; Transporter; Transporter, ion channel

Chromosomal Location of Human Ortholog: 7q34

Cellular Component: phagocytic vesicle membrane; brush border membrane; lysosomal membrane; apical part of cell; apical plasma membrane; plasma membrane; integral to membrane; endosome membrane; vacuolar proton-transporting V-type ATPase complex; endosome

Molecular Function: protein binding; hydrogen ion transporting ATPase activity, rotational mechanism; ATPase binding

Biological Process: interaction with host; ossification; ATP synthesis coupled proton transport; cellular iron ion homeostasis; transferrin transport; excretion; vacuolar acidification; proton transport; sensory perception of sound; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; regulation of pH; transmembrane transport

Disease: Renal Tubular Acidosis, Distal, Autosomal Recessive