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LOR

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.

Read more about gene names and symbols on the About page.

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? 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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

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.

See also Understanding Medical Terminology.

References (10 links)

 

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? in the Handbook.

 
Reviewed: November 2012
Published: January 27, 2015