Rabbit anti-Human ATP6V0A4 Polyclonal Antibody

Uniprot Id

Q9HBG4

Target Species

Human

Target Name

ATP6V0A4

Target Full Name

V-type proton ATPase 116 kDa subunit a 4

Target Function

Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.

Target Involvement

Renal tubular acidosis, distal, autosomal recessive (RTADR)

Target Subcellular Location

Apical cell membrane; Multi-pass membrane protein. Note=Present at high density almost exclusively on the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron.

Target Protein Families

V-ATPase 116 kDa subunit family

Target Tissue Specificity

Expressed in adult and fetal kidney. Found in the inner ear.

Target Synonyms

ATP6V0A4; ATP6N1B; ATP6N2; V-type proton ATPase 116 kDa subunit a isoform 4; V-ATPase 116 kDa isoform a4; Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4; Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform

Target Background

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing.