Aliases for FAM111B Gene
External Ids for FAM111B Gene
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. [provided by RefSeq, Apr 2014]
GeneCards Summary for FAM111B Gene
FAM111B (Family With Sequence Similarity 111, Member B) is a Protein Coding gene. Diseases associated with FAM111B include poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis. An important paralog of this gene is FAM111A.