loricrin cornified envelope precursor protein
Última actualización 5 de jul de 2022
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El LORICRIN gene is part of a cluster of genes on chromosome 1 called the epidermal differentiation complex. These genes are involved in the formation and maintenance of the outer layer of skin (the epidermis), particularly its tough outer surface (the stratum corneum). The stratum corneum, which is formed in a process known as cornification, provides a sturdy barrier between the body and its environment. Each cell of the stratum corneum, called a corneocyte, is surrounded by a protein shell called a cornified envelope.
Normal function
El LORICRIN gene is part of a cluster of genes on chromosome 1 called the epidermal differentiation complex. These genes are involved in the formation and maintenance of the outer layer of skin (the epidermis), particularly its tough outer surface (the stratum corneum). The stratum corneum, which is formed in a process known as cornification, provides a sturdy barrier between the body and its environment. Each cell of the stratum corneum, called a corneocyte, is surrounded by a protein shell called a cornified envelope.
El LORICRIN gene provides instructions for making a protein called loricrin, which is a major component of the cornified envelope. Links between loricrin and other components of the envelopes hold the corneocytes together and help give the stratum corneum its strength.
Conditions referring to this gene or chromosome
Otros nombres
LOR
LORI_HUMAN
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Lecturas adicionales y referencias
- loricrin cornified envelope precursor protein; MedlinePlus, National Library of Medicine.
- Drera B, Tadini G, Balbo F, Marchese L, Barlati S, Colombi M. De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. Clin Genet. 2008 Jan;73(1):85-8. doi: 10.1111/j.1399-0004.2007.00914.x. Epub 2007 Oct 22. No abstract available.
- Elias PM, Williams ML, Crumrine D, Schmuth M. Inherited disorders of corneocyte proteins. Curr Probl Dermatol. 2010;39:98-131. doi: 10.1159/000321086. Epub 2010 Sep 14. No abstract available.
- Gedicke MM, Traupe H, Fischer B, Tinschert S, Hennies HC. Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. Br J Dermatol. 2006 Jan;154(1):167-71. doi: 10.1111/j.1365-2133.2005.06995.x.
- Henry J, Toulza E, Hsu CY, Pellerin L, Balica S, Mazereeuw-Hautier J, Paul C, Serre G, Jonca N, Simon M. Update on the epidermal differentiation complex. Front Biosci (Landmark Ed). 2012 Jan 1;17(4):1517-32. doi: 10.2741/4001.
- Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks DE, Lathrop M, Uitto J, Christiano AM. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet. 1996 May;13(1):70-7. doi: 10.1038/ng0596-70.
- O'Driscoll J, Muston GC, McGrath JA, Lam HM, Ashworth J, Christiano AM. A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. Clin Exp Dermatol. 2002 May;27(3):243-6. doi: 10.1046/j.1365-2230.2002.01031.x.
- Schmuth M, Fluhr JW, Crumrine DC, Uchida Y, Hachem JP, Behne M, Moskowitz DG, Christiano AM, Feingold KR, Elias PM. Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol. 2004 Apr;122(4):909-22. doi: 10.1111/j.0022-202X.2004.22431.x.
- Schmuth M, Gruber R, Elias PM, Williams ML. Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol. 2007;23:231-56. doi: 10.1016/j.yadr.2007.07.011.
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