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FAM111B
family with sequence similarity 111, member B
FAM111B 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: | family with sequence similarity 111, member B |
| Synonyms: | FAM111B, CANP, Protein FAM111B |
| Target Sequences: | Q6SJ93 Q6SJ93 |
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