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Genetics Home Reference: your guide to understanding genetic conditions
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LOR

Reviewed November 2012

What is the official name of the LOR gene?

The official name of this gene is “loricrin.”

LOR is the gene's official symbol. The LOR gene is also known by other names, listed below.

What is the normal function of the LOR gene?

The LOR 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.

The LOR 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.

How are changes in the LOR gene related to health conditions?

Vohwinkel syndrome - caused by mutations in the LOR gene

At least two mutations in the LOR gene have been identified in people with the variant form of Vohwinkel syndrome, sometimes called loricrin keratoderma. This disorder is characterized by skin abnormalities including widespread dry, scaly skin (ichthyosis), especially on the limbs. The mutations that cause the variant form of Vohwinkel syndrome change the structure of the loricrin protein; the altered protein is trapped inside the cell and cannot reach the cornified envelope. While other proteins can partially compensate for the missing loricrin, the envelope of some of the corneocytes is thinner than normal, resulting in the dry, scaly skin (ichthyosis) and other skin abnormalities associated with the variant form of Vohwinkel syndrome.

Where is the LOR gene located?

Cytogenetic Location: 1q21

Molecular Location on chromosome 1: base pairs 153,259,702 to 153,262,123

The LOR gene is located on the long (q) arm of chromosome 1 at position 21.

The LOR gene is located on the long (q) arm of chromosome 1 at position 21.

More precisely, the LOR gene is located from base pair 153,259,702 to base pair 153,262,123 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about LOR?

You and your healthcare professional may find the following resources about LOR helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the LOR gene or gene products?

  • LORI_HUMAN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding LOR?

cell ; chromosome ; differentiation ; epidermis ; gene ; ichthyosis ; keratoderma ; protein ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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. Epub 2007 Oct 22. (http://www.ncbi.nlm.nih.gov/pubmed/17953701?dopt=Abstract)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20838039?dopt=Abstract)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16403113?dopt=Abstract)
  • 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;17:1517-32. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22201818?dopt=Abstract)
  • OMIM: LORICRIN (http://omim.org/entry/152445)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/8673107?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4014)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/12072018?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15102081?dopt=Abstract)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18159904?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2012
Published: September 15, 2014