FAM111B Chromosome 11
FAM111 trypsin like peptidase B
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What This Gene Does
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]
Associated Conditions (1)
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Key Variants
RS1555014282
Likely pathogenic
Health Risk
RS1565191262
Likely pathogenic
Health Risk
RS2135404946
Likely pathogenic
Health Risk
RS587777236
Likely pathogenic
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement, Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Health Risk
RS2135405575
Pathogenic
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement, Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Health Risk
RS587777237
Pathogenic
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement, Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Health Risk
RS587777238
Pathogenic
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement, Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555014282 | Health Risk | Likely pathogenic | — |
| RS1565191262 | Health Risk | Likely pathogenic | — |
| RS2135404946 | Health Risk | Likely pathogenic | — |
| RS587777236 | Health Risk | Likely pathogenic | Hereditary sclerosing poikiloderma with tendon and pulmonary involvement, Hereditary sclerosing poikiloderma with tendon and pulmonary involvement |
| RS2135405575 | Health Risk | Pathogenic | Hereditary sclerosing poikiloderma with tendon and pulmonary involvement, Hereditary sclerosing poikiloderma with tendon and pulmonary involvement |
| RS587777237 | Health Risk | Pathogenic | Hereditary sclerosing poikiloderma with tendon and pulmonary involvement, Hereditary sclerosing poikiloderma with tendon and pulmonary involvement |
| RS587777238 | Health Risk | Pathogenic | Hereditary sclerosing poikiloderma with tendon and pulmonary involvement, Hereditary sclerosing poikiloderma with tendon and pulmonary involvement |