FBLN5 Gene

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Li, V. FBLN5 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5514 (accessed on 21 September 2026).

Li V. FBLN5 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5514. Accessed September 21, 2026.

Li, Vivi. "FBLN5 Gene" Encyclopedia, https://encyclopedia.pub/entry/5514 (accessed September 21, 2026).

Li, V. (2020, December 25). FBLN5 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5514

Li, Vivi. "FBLN5 Gene." Encyclopedia. Web. 25 December, 2020.

FBLN5 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/fbln5

Fibulin 5: The FBLN5 gene provides instructions for making a protein called fibulin-5.

genes

References

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.
Kobayashi N, Kostka G, Garbe JH, Keene DR, Bächinger HP, Hanisch FG, MarkovaD, Tsuda T, Timpl R, Chu ML, Sasaki T. A comparative analysis of the fibulinprotein family. Biochemical characterization, binding interactions, and tissuelocalization. J Biol Chem. 2007 Apr 20;282(16):11805-16.
Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, DePaepe A. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in asevere form of cutis laxa. Hum Mol Genet. 2002 Sep 1;11(18):2113-8.
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 inage-related macular degeneration and cutis laxa. Hum Mutat. 2006Jun;27(6):568-74.
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 thefibulin-5 (FBLN5) gene. Am J Hum Genet. 2003 Apr;72(4):998-1004.
Mullins RF, Olvera MA, Clark AF, Stone EM. Fibulin-5 distribution in humaneyes: relevance to age-related macular degeneration. Exp Eye Res. 2007Feb;84(2):378-80.
Nonaka R, Onoue S, Wachi H, Sato F, Urban Z, Starcher BC, Seyama Y.DANCE/fibulin-5 promotes elastic fiber formation in a tropoelastinisoform-dependent manner. Clin Biochem. 2009 May;42(7-8):713-21. doi:10.1016/j.clinbiochem.2008.12.020.
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 andage-related macular degeneration. N Engl J Med. 2004 Jul 22;351(4):346-53.
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 molecularinteraction between tropoelastin and DANCE/fibulin-5. J Biochem. 2008May;143(5):633-9. doi: 10.1093/jb/mvn014.

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Subjects: Genetics & Heredity

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Update Date: 25 Dec 2020

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