Anti-ATP6V1B1 Antibody Picoband® fluoro594 Vervoeging

V-type proton ATPase subunit B, kidney isoform is an enzyme that in humans is encoded by the ATP6V1B1 gene. This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle 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. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness.

ATP6V1B1

525

P15313

Human

E.coli-derived human ATP6V1B1 recombinant protein (Position: C17-L513) . Human ATP6V1B1 shares 95.2% and 88.2% amino acid (aa) sequence identity with mouse and rat ATP6V1B1, respectively.

Flow Cytometry

Immunogen affinity purified.

Liquid

1. Borthwick, K. J., Kandemir, N., Topaloglu, R., Kornak, U., Bakkaloglu, A., Yordam, N., Ozen, S., Mocan, H., Shah, G. N., Sly, W. S., Karet, F. E. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J. Med. Genet. 40: 115-121, 2003. 2. Karet, F. E., Finberg, K. E., Nelson, R. D., Nayir, A., Mocan, H., Sanjad, S. A, Rodriguez-Soriano, J., Santos, F., Cremers, C. W. R. J., DiPietro, A., Hoffbrand, B. I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S. A., Wu, D. K., Skvorak, A. B., Morton, C. C., Cunningham, M. J., Jha, V., Lifton, R. P. Mutations in the gene encoding B1 subunit of H (+) -ATPase cause renal tubular acidosis with sensorineural deafness. Nature Genet. 21: 84-90, 1999. 3. Mohebbi, N., Vargas-Poussou, R., Hegemann, S. C. A., Schuknecht, B., Kistler, A. D., Wuthrich, R. P., Wagner, C. A. Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Clin. Genet. 83: 274-278, 2013.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

6

IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.