MyBioSource.com's FAM111B Polyclonal Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: EIA, Immunoassay, ELISA, and Immunohistochemistry. The FAM111B Polyclonal Antibody was generated using FAM111B as the antigen and it reacts with Human.
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