fibulin 5
Última actualización 18 Abr 2023
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El 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
El 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
Otros nombres
ARMD3
DANCE
developmental arteries and neural crest epidermal growth factor-like
EVEC
FBLN5_HUMAN
FIBL-5
FLJ90059
UP50
urine p50 protein
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Lecturas adicionales y referencias
- 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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