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| Cat.No | ACP05705 | Target Name | ATP6V0A4 |
|---|---|---|---|
| Form | Lyophilized powder | Expression System | Custom Production. Please inquire and provide the desire expression system. |
| Protein Length | Partial | Purity | >85% (SDS-PAGE) |
| Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q9HBG4 |
|---|
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.
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