The FAM111B gene provides instructions for making a protein whose function is not well understood. The FAM111B protein, which is found in many parts of the body, contains a functional region called a peptidase domain. Similar proteins containing such a domain are able to break down other proteins. However, the types of proteins the FAM111B protein interacts with and the roles it plays in the body are unknown.
Health Conditions Related to Genetic Changes
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
At least six mutations in the FAM111B gene have been identified in people with hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP). This disorder affects many parts of the body, particularly the skin, muscles, lungs, and pancreas.
The FAM111B gene mutations that cause POIKTMP result in production of an abnormal FAM111B protein from one copy of the gene in each cell. Because most of the FAM111B mutations identified in people with POIKTMP change single protein building blocks (amino acids) in the peptidase domain, researchers think that the mutations alter the protein's function, and that these changes in FAM111B function underlie the varied signs and symptoms of POIKTMP.More About This Health Condition
Other Names for This Gene
- cancer-associated nucleoprotein
- protein FAM111B isoform a
- protein FAM111B isoform b
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- Mercier S, Kury S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Breheret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israel-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahe JY, Mallet S, MacGowan S, McAleer MA, McLean I, Meni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Pereon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bezieau S. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4. Citation on PubMed or Free article on PubMed Central
- Mercier S, Kury S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bezieau S, Mayosi BM. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet. 2013 Dec 5;93(6):1100-7. doi: 10.1016/j.ajhg.2013.10.013. Epub 2013 Nov 21. Citation on PubMed or Free article on PubMed Central
- Seo A, Walsh T, Lee MK, Ho PA, Hsu EK, Sidbury R, King MC, Shimamura A. FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. Pancreas. 2016 Jul;45(6):858-62. doi: 10.1097/MPA.0000000000000529. Citation on PubMed or Free article on PubMed Central
- Takeichi T, Nanda A, Yang HS, Hsu CK, Lee JY, Al-Ajmi H, Akiyama M, Simpson MA, McGrath JA. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B. Br J Dermatol. 2017 Feb;176(2):534-536. doi: 10.1111/bjd.14845. Epub 2016 Dec 22. No abstract available. Citation on PubMed
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