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ELANE

ELANE

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.

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

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.

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? in the Handbook.

Where can I find additional information about ELANE?

You and your healthcare professional may find the following resources about ELANE 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 ELANE gene or gene products?

  • bone marrow serine protease
  • ELA2
  • elastase-2
  • ELNE_HUMAN
  • granulocyte-derived elastase
  • NE
  • neutrophil elastase

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 ELANE?

acids ; bone marrow ; cell ; congenital ; deficiency ; expressed ; gene ; immune response ; infection ; inflammation ; neutropenia ; neutrophils ; protease ; protein ; serine

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: January 2012
Published: February 23, 2015