Reviewed January 2012
What is the official name of the ELANE gene?
The official name of this gene is “elastase, neutrophil expressed.”
ELANE is the gene's official symbol. The ELANE gene is also known by other names, listed below.
What is the normal function of the ELANE gene?
The ELANE gene provides instructions for making a protein called neutrophil elastase. This protein is found in neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase. This protein then modifies the function of certain cells and proteins to fight the infection.
How are changes in the ELANE gene related to health conditions?
- cyclic neutropenia - caused by mutations in the ELANE gene
More than 15 mutations in the ELANE gene have been found to cause cyclic neutropenia, a condition characterized by episodes of neutrophil shortages (neutropenia) and increased risk of infection. ELANE gene mutations that cause cyclic neutropenia change single protein building blocks (amino acids) in neutrophil elastase. These mutations are thought to create an abnormal protein that retains some function. However, neutrophils that produce abnormal neutrophil elastase proteins appear to have a shorter lifespan than normal. The shorter neutrophil lifespan is thought to be responsible for the cyclic nature of this condition. When the affected neutrophils die early, there is a period in which there is a shortage of neutrophils because it takes time for the body to replenish its supply. For most affected individuals, neutropenia recurs every 21 days.
- severe congenital neutropenia - caused by mutations in the ELANE gene
More than 70 mutations in the ELANE gene have been found to cause severe congenital neutropenia, a condition characterized by neutropenia beginning in infancy. Most of these mutations alter the structure of neutrophil elastase, causing it to fold into an incorrect 3-dimensional shape. Research findings indicate that misfolded neutrophil elastase protein accumulates in neutrophils. This accumulation likely damages and kills these infection-fighting cells. A deficiency of neutrophils results in recurrent infections, episodes of inflammation, and other immune problems in people with severe congenital neutropenia.
Where is the ELANE gene located?
Cytogenetic Location: 19p13.3
Molecular Location on chromosome 19: base pairs 850,988 to 856,245
The ELANE gene is located on the short (p) arm of chromosome 19 at position 13.3.
More precisely, the ELANE gene is located from base pair 850,988 to base pair 856,245 on chromosome 19.
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 ELANE?
You and your healthcare professional may find the following resources about ELANE helpful.
Educational resources - Information pages
- Cancer Medicine (sixth edition, 2003): Neutropenia (http://www.ncbi.nlm.nih.gov/books/NBK13000/)
- Immunobiology (fifth edition, 2001): Neutrophils make up the first wave of cells that cross the blood vessel wall to enter inflammatory sites (http://www.ncbi.nlm.nih.gov/books/NBK27122/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1533/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ELANE (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1991%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=(ELANE%5BTIAB%5D)%20OR%20((ELA2%5BTIAB%5D)%20OR%20(neutrophil%20elastase%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20360%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/130130)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ELANE.html)
- ELA2base: Mutation Registry for Cyclic Neutropenia; Congenital Neutropenia (http://bioinf.uta.fi/ELA2base/)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=1991)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=3309)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1991)
What other names do people use for the ELANE gene or gene products?
- bone marrow serine protease
- granulocyte-derived elastase
- neutrophil elastase
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 ELANE?
bone marrow ;
immune response ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bellanné-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood. 2004 Jun 1;103(11):4119-25. Epub 2004 Feb 12. (http://www.ncbi.nlm.nih.gov/pubmed/14962902?dopt=Abstract)
- Boztug K, Klein C. Novel genetic etiologies of severe congenital neutropenia. Curr Opin Immunol. 2009 Oct;21(5):472-80. doi: 10.1016/j.coi.2009.09.003. Epub 2009 Sep 24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19782549?dopt=Abstract)
- Grenda DS, Murakami M, Ghatak J, Xia J, Boxer LA, Dale D, Dinauer MC, Link DC. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood. 2007 Dec 15;110(13):4179-87. Epub 2007 Aug 30. (http://www.ncbi.nlm.nih.gov/pubmed/17761833?dopt=Abstract)
- Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME, Salipante SJ. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood. 2007 Mar 1;109(5):1817-24. Epub 2006 Oct 19. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17053055?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1991)
- OMIM: ELASTASE, NEUTROPHIL-EXPRESSED (http://omim.org/entry/130130)
- Rosenberg PS, Alter BP, Link DC, Stein S, Rodger E, Bolyard AA, Aprikyan AA, Bonilla MA, Dror Y, Kannourakis G, Newburger PE, Boxer LA, Dale DC. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol. 2008 Jan;140(2):210-3. Epub 2007 Nov 20. (http://www.ncbi.nlm.nih.gov/pubmed/18028488?dopt=Abstract)
- Schäffer AA, Klein C. Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):481-94. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17989524?dopt=Abstract)
- Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, Link DC. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol. 2009 Nov;147(4):535-42. doi: 10.1111/j.1365-2141.2009.07888.x. Epub 2009 Sep 22. (http://www.ncbi.nlm.nih.gov/pubmed/19775295?dopt=Abstract)
- Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol. 2009 Feb;144(4):459-67. doi: 10.1111/j.1365-2141.2008.07425.x. Epub 2008 Dec 10. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19120359?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.