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The official name of this gene is “EGF containing fibulin-like extracellular matrix protein 2.”
EFEMP2 is the gene's official symbol. The EFEMP2 gene is also known by other names, listed below.
The EFEMP2 gene provides instructions for making a protein called EGF-containing fibulin-like extracellular matrix protein 2, which is also known as fibulin-4. This protein is part of a group of proteins called fibulins. Fibulins have a variety of functions in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells.
Little is known about the function of fibulin-4 in the extracellular matrix. It appears to play a critical role in the assembly of elastic fibers, which are slender bundles of protein that provide strength and flexibility to connective tissue (tissue that supports the body's joints and organs). Fibulin-4 is found in tissues and organs that are rich in elastic fibers, including the blood vessels, heart valves, lungs, and skin.
At least three mutations in the EFEMP2 gene have been identified in people with cutis laxa. EFEMP2 mutations cause a form of the disorder called autosomal recessive cutis laxa type I, which is characterized by loose and sagging skin, a lung disease called emphysema, and severe abnormalities involving the heart and blood vessels.
Mutations in the EFEMP2 gene likely prevent cells from producing any functional fibulin-4. Without this protein, elastic fibers cannot be assembled normally in the extracellular matrix. A shortage of normal elastic fibers weakens connective tissue in the skin, blood vessels, lungs, and other organs. These defects in connective tissue underlie the major features of cutis laxa.
Cytogenetic Location: 11q13.1
Molecular Location on chromosome 11: base pairs 65,866,440 to 65,872,933
The EFEMP2 gene is located on the long (q) arm of chromosome 11 at position 13.1.
More precisely, the EFEMP2 gene is located from base pair 65,866,440 to base pair 65,872,933 on chromosome 11.
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 EFEMP2 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.
autosomal ; autosomal recessive ; connective tissue ; elastic ; emphysema ; extracellular ; extracellular matrix ; gene ; protein ; recessive ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://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.