Anti-FAM111B Antibody Picoband® fluoro594 Vervoeging

This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP) . Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐ like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1.

FAM111B

374393

Q6SJ93

Human

E.coli-derived human FAM111B recombinant protein (Position: Q328-D726) . Human FAM111B shares 45.4% amino acid (aa) sequence identity with mouse FAM111B.

Flow Cytometry

Immunogen affinity purified.

Liquid

1. Khumalo, N. P., Pillay, K., Beighton, P., Wainwright, H., Walker, B., Saxe, N., Mayosi, B. M., Bateman, E. D. Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome? Brit. J. Derm. 155: 1057-1061, 2006. 2. Mercier, S., Kury, S., Shaboodien, G., Houniet, D. T., Khumalo, N. P., Bou-Hanna, C., Bodak, N., Cormier-Daire, V., David, A., Faivre, L., Figarella-Branger, D., Gherardi, R. K., and 18 others. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am. J. Hum. Genet. 93: 1100-1107, 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.