fibulin 5
آخر تحديث 18 أبريل 2023
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ال FBLN5 gene provides instructions for making a protein called fibulin-5. 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
ال FBLN5 gene provides instructions for making a protein called fibulin-5. 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.
In the extracellular matrix, fibulin-5 appears to play a critical role in the assembly of elastic fibers. These slender bundles of proteins provide strength and flexibility to connective tissue (tissue that supports the body's joints and organs). Fibulin-5 is found in tissues and organs that are rich in elastic fibers, including developing arteries and the heart valves, lungs, and skin.
Conditions referring to this gene or chromosome
Other names
ARMD3
DANCE
developmental arteries and neural crest epidermal growth factor-like
EVEC
FBLN5_HUMAN
FIBL-5
FLJ90059
UP50
urine p50 protein
Related patient information and medicines
Patient information leaflet
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ال risk of malaria can be reduced by taking. Self-treatment is a last resort as it is very difficult for anyone to make treatment decisions about themselves. Reference book Pocket First Aid and Wilderness Medicine: Drs Jim Duff and Peter Gormly (2010). This is an excellent handbook covering what to do as a layperson in most medical situations you.
Patient information leaflet
الحصبة
And, if necessary, you may be offered immediate immunisation or a protecting injection of antibody (immunoglobulin). This is called 'post-exposure prophylaxis'. See the guidelines from the UK Health Security Agency (UKHSA) cited at the end under 'Further Reading and References'. How do you diagnose measles. Your doctor will usually be able to.
Patient information leaflet
مرض كاواساكي
مرض كاواساكي هو a rare condition that affects small to medium-sized blood vessels in the body. Kawasaki disease causes the the walls of the blood vessels to become inflamed and swollen (vasculitis). Kawasaki disease mainly affects children less than 5 years old. The exact cause of Kawasaki disease remains unknown. Kawasaki disease causes a.
Patient information leaflet
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Polio (poliomyelitis), is a serious illness that can be debilitating و life-threatening. There is no cure but thanks to vaccinations, the illness is rare. Polio is very rare in places with polio vaccination, because the vaccine is so effective. All ch... See your practice nurse if you think that you are not fully vaccinated. What is polio. Polio.
Patient information leaflet
التبول اللاإرادي
Bedwetting is common. In time, most children become dry at night without any treatment. However, an option is to use treatment which promotes dry nights sooner rather than later. Treatment is considered for children aged 5 years and over. What is bedwetting. Bedwetting (nocturnal enuresis) means a child passes urine in the night when they are.
Patient information leaflet
الحمى عند الأطفال
With a chemical dot thermometer in the armpit. With a digital thermometer designed to be placed in the ear. When should you go to the doctor. The National Institute for Health and Care Excellence (NICE) has produced إرشادات aimed to help healthcare professionals assess children with fever. These can also be useful to parents. They look at the.
قراءة إضافية ومراجع
- fibulin 5; MedlinePlus, National Library of Medicine.
- Hu Q, Loeys BL, Coucke PJ, De Paepe A, Mecham RP, Choi J, Davis EC, Urban Z. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet. 2006 Dec 1;15(23):3379-86. doi: 10.1093/hmg/ddl414. Epub 2006 Oct 11.
- 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.
- Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet. 2002 Sep 1;11(18):2113-8. doi: 10.1093/hmg/11.18.2113.
- Lotery AJ, Baas D, Ridley C, Jones RP, Klaver CC, Stone E, Nakamura T, Luff A, Griffiths H, Wang T, Bergen AA, Trump D. Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. Hum Mutat. 2006 Jun;27(6):568-74. doi: 10.1002/humu.20344.
- Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet. 2003 Apr;72(4):998-1004. doi: 10.1086/373940. Epub 2003 Feb 28.
- Mullins RF, Olvera MA, Clark AF, Stone EM. Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration. Exp Eye Res. 2007 Feb;84(2):378-80. doi: 10.1016/j.exer.2006.09.021. Epub 2006 Nov 14.
- Nonaka R, Onoue S, Wachi H, Sato F, Urban Z, Starcher BC, Seyama Y. DANCE/fibulin-5 promotes elastic fiber formation in a tropoelastin isoform-dependent manner. Clin Biochem. 2009 May;42(7-8):713-21. doi: 10.1016/j.clinbiochem.2008.12.020. Epub 2009 Jan 8.
- Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC. Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med. 2004 Jul 22;351(4):346-53. doi: 10.1056/NEJMoa040833.
- Van Maldergem L, Loeys B. FBLN5-Related Cutis Laxa. 2009 Mar 19 [updated 2023 Jun 15]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK5201/
- Wachi H, Nonaka R, Sato F, Shibata-Sato K, Ishida M, Iketani S, Maeda I, Okamoto K, Urban Z, Onoue S, Seyama Y. Characterization of the molecular interaction between tropoelastin and DANCE/fibulin-5. J Biochem. 2008 May;143(5):633-9. doi: 10.1093/jb/mvn014. Epub 2008 Feb 10.
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