Anti-BBS1 Antibody Picoband® 0,00647 Vervoeging

Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.

BBS1; BBS2L2; Bardet-Biedl syndrome 1 protein; BBS2-like protein 2

BBS1

582

Q8NFJ9

Human, Mouse, Rat

No cross-reactivity with other proteins

E.coli-derived human ATF5 recombinant protein (Position: L11-R275) . Human ATF5 shares 86.5% and 87.2% amino acid (aa) sequence identity with mouse and rat ATF5, respectively.

Flow Cytometry

Immunogen affinity purified.

Liquid

1. Badano, J. L., Ansley, S. J., Leitch, C. C., Lewis, R. A., Lupski, J. R., Katsanis, N. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am. J. Hum. Genet. 72: 650-658, 2003. 2. Badano, J. L., Kim, J. C., Hoskins, B. E., Lewis, R. A., Ansley, S. J., Cutler, D. J., Castellan, C., Beales, P. L., Leroux, M. R., Katsanis, N. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum. Molec. Genet. 12: 1651-1659, 2003. 3. Beales, P. L., Badano, J. L., Ross, A. J., Ansley, S. J., Hoskins, B. E., Kirsten, B., Mein, C. A., Froguel, P., Scambler, P. J., Lewis, R. A., Lupski, J. R., Katsanis, N. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-mendelian Bardet-Biedl syndrome. Am. J. Hum. Genet. 72: 1187-1199, 2003.

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

65 kDa

6

Bardet-Biedl syndrome 1

Bardet-Biedl syndrome 1 protein

Rabbit IgG

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