The EFEMP2 gene provides instructions for making a protein called EGF-containing fibulin 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.
Health Conditions Related to Genetic Changes
At least six variants (also known as mutations) in the EFEMP2 gene have been identified in people with cutis laxa. EFEMP2 variants cause a form of the disorder called autosomal recessive cutis laxa type 1B (ARCL1B), which is characterized by loose and sagging skin, a lung disease called emphysema, and severe abnormalities involving the heart and blood vessels.
Variants 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.More About This Health Condition
Other Names for This Gene
- EGF containing fibulin like extracellular matrix protein 2
- EGF containing fibulin-like extracellular matrix protein 2
- EGF-containing fibulin-like extracellular matrix protein 2
- fibulin 4
- fibulin-like extracellular matrix protein
- mutant p53 binding protein 1
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- Dasouki M, Markova D, Garola R, Sasaki T, Charbonneau NL, Sakai LY, Chu ML. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. Am J Med Genet A. 2007 Nov 15;143A(22):2635-41. Citation on PubMed
- Giltay R, Timpl R, Kostka G. Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4. Matrix Biol. 1999 Oct;18(5):469-80. Citation on PubMed
- Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet. 2006 Jun;78(6):1075-80. Epub 2006 Apr 10. Citation on PubMed or Free article on PubMed Central
- Kielty CM. Elastic fibres in health and disease. Expert Rev Mol Med. 2006 Aug 8;8(19):1-23. Review. Citation on PubMed
- Kobayashi N, Kostka G, Garbe JH, Keene DR, Bächinger HP, Hanisch FG, Markova D, Tsuda T, Timpl R, Chu ML, Sasaki T. A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization. J Biol Chem. 2007 Apr 20;282(16):11805-16. Epub 2007 Feb 26. Citation on PubMed
- Timpl R, Sasaki T, Kostka G, Chu ML. Fibulins: a versatile family of extracellular matrix proteins. Nat Rev Mol Cell Biol. 2003 Jun;4(6):479-89. Review. Citation on PubMed