FAM111B, family with sequence similarity 111 member B

FAM111B, family with sequence similarity 111 member B

• 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 Synonyms (CANP, POIKTMP, protein FAM111B, cancer-associated nucleoprotein,)
• NCBI Gene ID: 374393
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q6SJ93
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

family with sequence similarity 111 member B interacts with:

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