The FAM111B Polyclonal Antibody from MyBioSource.com is a Rabbit Polyclonal antibody to FAM111B. This antibody recognizes Human antigen. The FAM111B Polyclonal Antibody has been shown to work in the following applications: EIA, Immunoassay, ELISA, and Immunohistochemistry.
Description
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