EGF-like fibulin extracellular matrix protein 2
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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.
Normal function
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.
Conditions referring to this gene or chromosome
Other names
EGF containing fibulin extracellular matrix protein 2
EGF containing fibulin like extracellular matrix protein 2
EGF containing fibulin-like extracellular matrix protein 2
EGF-containing fibulin-like extracellular matrix protein 2
FBLN4
fibulin 4
fibulin-like extracellular matrix protein
MBP1
mutant p53 binding protein 1
UPH1
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Leitura adicional e referências
- EGF-like fibulin extracellular matrix protein 2; MedlinePlus, National Library of Medicine.
- 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. doi: 10.1002/ajmg.a.31980.
- 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. doi: 10.1016/s0945-053x(99)00038-4.
- 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. doi: 10.1086/504304. Epub 2006 Apr 10.
- Kielty CM. Elastic fibres in health and disease. Expert Rev Mol Med. 2006 Aug 8;8(19):1-23. doi: 10.1017/S146239940600007X.
- Kobayashi N, Kostka G, Garbe JH, Keene DR, Bachinger 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. doi: 10.1074/jbc.M611029200. Epub 2007 Feb 26.
- 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. doi: 10.1038/nrm1130.
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