ALOXE3

Reviewed August 2010

What is the official name of the ALOXE3 gene?

The official name of this gene is “arachidonate lipoxygenase 3.”

ALOXE3 is the gene's official symbol. The ALOXE3 gene is also known by other names, listed below.

What is the normal function of the ALOXE3 gene?

The ALOXE3 gene provides instructions for making an enzyme called eLOX3. This enzyme is part of a family of enzymes called lipoxygenases. Most enzymes in this family help add an oxygen molecule to certain fatty acids to produce substances called fatty acid hydroperoxides.

Unlike other lipoxygenases, the eLOX3 enzyme does not act directly on fatty acids. Instead, it processes the product of another lipoxygenase reaction, a fatty acid hydroperoxide. The substance produced is later converted to a signaling molecule that is involved in the growth and division (proliferation) and specialization (differentiation) of skin cells.

The eLOX3 enzyme is thought to play a role in the formation and maintenance of the fat (lipid) membrane of the cells that make up the outermost layer of the skin (the epidermis). The epidermis helps prevent water loss, regulates body temperature, and protects against infection.

Does the ALOXE3 gene share characteristics with other genes?

The ALOXE3 gene belongs to a family of genes called ALOX (arachidonate lipoxygenases).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the ALOXE3 gene related to health conditions?

nonbullous congenital ichthyosiform erythroderma - caused by mutations in the ALOXE3 gene: At least 10 mutations in the ALOXE3 gene have been found to cause nonbullous congenital ichthyosiform erythroderma (NBCIE). Most of these mutations change single protein building blocks (amino acids) in the eLOX3 enzyme. Many ALOXE3 gene mutations lead to the production of a nonfunctional eLOX3 enzyme, which impairs the formation of the lipid membrane of cells within the epidermis. Problems with this protective barrier underlie the skin abnormalities and other features of NBCIE.

Where is the ALOXE3 gene located?

Cytogenetic Location: 17p13.1

Molecular Location on chromosome 17: base pairs 7,999,217 to 8,022,233

The ALOXE3 gene is located on the short (p) arm of chromosome 17 at position 13.1.

More precisely, the ALOXE3 gene is located from base pair 7,999,217 to base pair 8,022,233 on chromosome 17.

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 ALOXE3?

You and your healthcare professional may find the following resources about ALOXE3 helpful.

Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1420/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ALOXE3 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59344%5Bgeneid%5D)

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

PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(ALOXE3%5BTIAB%5D)%20OR%20(eLOX3%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/607206)
Research Resources - Tools for researchers
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/59344)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=59344)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=13743)

What other names do people use for the ALOXE3 gene or gene products?

E-LOX
eLOX3
e-LOX-3
epidermal lipoxygenase
LOXE3_HUMAN
MGC119694
MGC119695
MGC119696

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 ALOXE3?

acids ; congenital ; differentiation ; enzyme ; epidermis ; erythroderma ; fatty acids ; gene ; ichthyosiform ; infection ; lipid ; molecule ; oxygen ; proliferation ; protein

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

References

Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol. 2009 Jun;129(6):1421-8. doi: 10.1038/jid.2008.409. Epub 2009 Jan 8. (http://www.ncbi.nlm.nih.gov/pubmed/19131948?dopt=Abstract)
Eckl KM, Krieg P, Küster W, Traupe H, André F, Wittstruck N, Fürstenberger G, Hennies HC. Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61. (http://www.ncbi.nlm.nih.gov/pubmed/16116617?dopt=Abstract)
Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/59344)
Jobard F, Lefèvre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet. 2002 Jan 1;11(1):107-13. (http://www.ncbi.nlm.nih.gov/pubmed/11773004?dopt=Abstract)
OMIM: ARACHIDONATE LIPOXYGENASE 3 (http://omim.org/entry/607206)
Yu Z, Schneider C, Boeglin WE, Brash AR. Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. Biochim Biophys Acta. 2005 Jan 5;1686(3):238-47. (http://www.ncbi.nlm.nih.gov/pubmed/15629692?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.