CANP antibody, family with sequence similarity 111 member B antibody, FAM111B antibody
Background
Background: FAM111B has 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. [taken from NCBI Entrez Gene (Gene ID: 374393)].