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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.
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.
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.
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.
Cytogenetic Location: 17p13.1
Molecular Location on chromosome 17: base pairs 8,095,899 to 8,118,915
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 8,095,899 to base pair 8,118,915 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ALOXE3 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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).
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.