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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| FAM111B-20-RE | 20 (40 μL) | 200 μL |  |
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| FAM111B-20-OR | 20 (40 μL) | 200 μL |  |
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| FAM111B-20-GO | 20 (40 μL) | 200 μL |  |
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| FAM111B-20-GR | 20 (40 μL) | 200 μL |  |
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| FAM111B-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : FAM111B
Gene Name : Family with sequence similarity 111 member B
Chromosome : CHR 11: 591,071,84-591,274,14
Locus : 11q12.1
Alt. Genes : DSCR3
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