Anti-MSL3 Antibody Picoband® 0,00647 Vervoeging

Y+L amino acid transporter 1 is a protein that in humans is encoded by the SLC7A7 gene. The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI) . Alternative splicing results in multiple transcript variants.

MSL3

10943

Q8N5Y2

Human

E.coli-derived human SLC7A7 recombinant protein (Position: M1-D498) . Human SLC7A7 shares 90.8% and 91.6% amino acid (aa) sequence identity with mouse and rat SLC7A7, respectively.

Flow Cytometry

Immunogen affinity purified.

Liquid

1. Basilicata, M. F., Bruel, A.-L., Semplicio, G., Valsecchi, C. I. K., Aktas, T., Duffourd, Y., Rumpf, T., Morton, J., Bache, I., Szymanski, W. G., Gilissen, C., Vanakker, O., and 29 others. De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genet. 50: 1442-1451, 2018. 2. Brunet, T., McWalter, K., Mayerhanser, K., Anbouba, G. M., Armstrong-Javors, A., Bader, I., Baugh, E., Begtrup, A., Bupp, C. P., Callewaert, B. L., Cereda, A., Cousin, M. A., and 49 others. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. Genet. Med. 23: 384-395, 2021. 3. Prakash, S. K., Van den Veyver, I. B., Franco, B., Volta, M., Ballabio, A., Zoghbi, H. Y. Characterization of a novel chromo domain gene in Xp22.3 with homology to Drosophila msl-3. Genomics 59: 77-84, 1999.

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.