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Genetics Home Reference: your guide to understanding genetic conditions
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ALOX12B

Reviewed August 2010

What is the official name of the ALOX12B gene?

The official name of this gene is “arachidonate 12-lipoxygenase, 12R type.”

ALOX12B is the gene's official symbol. The ALOX12B gene is also known by other names, listed below.

What is the normal function of the ALOX12B gene?

The ALOX12B gene provides instructions for making an enzyme called 12R-LOX. This enzyme is part of a family of enzymes called arachidonate lipoxygenases. Most of these enzymes help add an oxygen molecule to a certain fatty acid called arachidonic acid. The addition of an oxygen molecule to arachidonic acid produces substances called fatty acid hydroperoxides, which can be transformed into a variety of signaling molecules. Specifically, the 12R-LOX enzyme helps add an oxygen molecule to arachidonic acid to make a substance called 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). 12R-HPETE is later converted to a signaling molecule that is involved in the growth and division (proliferation) and specialization (differentiation) of skin cells.

The 12R-LOX 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 ALOX12B gene share characteristics with other genes?

The ALOX12B 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 ALOX12B gene related to health conditions?

nonbullous congenital ichthyosiform erythroderma - caused by mutations in the ALOX12B gene

More than 30 mutations in the ALOX12B gene have been found to cause nonbullous congenital ichthyosiform erythroderma (NBCIE). Most of these mutations change single protein building blocks (amino acids) in the 12R-LOX enzyme. Many ALOX12B gene mutations lead to the production of a nonfunctional 12R-LOX enzyme, which impairs the formation of the lipid membrane of the cells within the epidermis. Problems with this protective barrier underlie the skin abnormalities and other features of NBCIE.

other disorders - caused by mutations in the ALOX12B gene

Another form of ichthyosis called self-healing collodion baby has been found to be caused by ALOX12B gene mutations. Individuals with this condition are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life, and affected infants often show near normal skin within a few months.

Only a few people diagnosed with self-healing collodion baby have been found to have ALOX12B gene mutations; the majority of cases are caused by mutations in other genes.

Where is the ALOX12B gene located?

Cytogenetic Location: 17p13.1

Molecular Location on chromosome 17: base pairs 7,975,953 to 7,991,020

The ALOX12B gene is located on the short (p) arm of chromosome 17 at position 13.1.

The ALOX12B gene is located on the short (p) arm of chromosome 17 at position 13.1.

More precisely, the ALOX12B gene is located from base pair 7,975,953 to base pair 7,991,020 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 ALOX12B?

You and your healthcare professional may find the following resources about ALOX12B helpful.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=li-ar)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for ALOX12B (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=242%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=(ALOX12B%5BTIAB%5D)%20OR%20(12R-LOX%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%202880%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/603741)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ALOX12B.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/242)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=242)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=430)

What other names do people use for the ALOX12B gene or gene products?

  • arachidonate 12-lipoxygenase, 12R-type
  • epidermis-type lipoxygenase 12
  • 12R-lipoxygenase
  • 12R-LOX
  • LX12B_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 ALOX12B?

acids ; congenital ; differentiation ; enzyme ; epidermis ; erythroderma ; gene ; ichthyosiform ; ichthyosis ; 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/242)
  • Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML. Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. Arch Dermatol. 2008 Mar;144(3):351-6. doi: 10.1001/archderm.144.3.351. (http://www.ncbi.nlm.nih.gov/pubmed/18347291?dopt=Abstract)
  • 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)
  • Lesueur F, Bouadjar B, Lefèvre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J. Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. J Invest Dermatol. 2007 Apr;127(4):829-34. Epub 2006 Nov 30. (http://www.ncbi.nlm.nih.gov/pubmed/17139268?dopt=Abstract)
  • OMIM: ARACHIDONATE 12-LIPOXYGENASE, R TYPE (http://omim.org/entry/603741)
  • 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.

 
Reviewed: August 2010
Published: May 13, 2013