Anti-FAM111B Antibody Picoband® Fluoro488 Conjugated

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.

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

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.