Anti-FAM111B Antibody Picoband® Fluoro488 Conjugated

Product Specifications

Background

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.

Gene Name

FAM111B

Gene ID

374393

UniProt

Q6SJ93

Host

Rabbit

Reactivity

Human

Immunogen

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

Clonality

Polyclonal

Applications

Flow Cytometry

Purification

Immunogen affinity purified.

Form

Liquid

References & Citations

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.