Reviewed June 2009
What is the official name of the FBLN5 gene?
The official name of this gene is “fibulin 5.”
FBLN5 is the gene's official symbol. The FBLN5 gene is also known by other names, listed below.
What is the normal function of the FBLN5 gene?
The 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.
How are changes in the FBLN5 gene related to health conditions?
- cutis laxa - caused by mutations in the FBLN5 gene
At least four mutations in the FBLN5 gene have been identified in people with cutis laxa. Mutations in this gene can cause two different types of cutis laxa: an autosomal dominant form and an autosomal recessive form. In autosomal dominant cutis laxa, one copy of the altered FBLN5 gene in each cell is sufficient to cause the characteristic features of the disorder. In autosomal recessive cutis laxa, both copies of the gene in each cell must be altered to result in the disease.
The FBLN5 mutation known to cause autosomal dominant cutis laxa leads to the production of an abnormally long, nonfunctional version of fibulin-5. This abnormal protein interferes with the normal fibulin-5 produced from the other, unaltered copy of the FBLN5 gene. As a result, the amount of functional fibulin-5 in the extracellular matrix is severely reduced. A shortage of this protein prevents the assembly of elastic fibers, which weakens connective tissue in the skin, arteries, lungs, and other organs. These defects in connective tissue underlie the major features of cutis laxa.
Autosomal recessive cutis laxa results from FBLN5 mutations that change single protein building blocks (amino acids) in fibulin-5. These mutations alter the structure of the protein, trapping it within the cell. Because the defective fibulin-5 never makes it to the extracellular matrix, it is not available for the assembly of elastic fibers. A shortage of normal elastic fibers weakens connective tissue throughout the body, leading to the signs and symptoms of cutis laxa.
- other disorders - increased risk from variations of the FBLN5 gene
Researchers have been studying FBLN5 mutations as a possible risk factor for age-related macular degeneration, an eye disease that is a leading cause of vision loss among older people worldwide. Mutations in the FBLN5 gene have been found in a small number of people with age-related macular degeneration, but changes in this gene are probably not a major risk factor for this common eye disorder. A combination of genetic and environmental factors likely determine the risk of developing this disease.
Where is the FBLN5 gene located?
Cytogenetic Location: 14q32.1
Molecular Location on chromosome 14: base pairs 91,869,411 to 91,947,702
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/10516))
The FBLN5 gene is located on the long (q) arm of chromosome 14 at position 32.1.
More precisely, the FBLN5 gene is located from base pair 91,869,411 to base pair 91,947,702 on chromosome 14.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about FBLN5?
You and your healthcare professional may find the following resources about FBLN5 helpful.
Educational resources - Information pages
- Madame Curie Bioscience Database: Fibulins (http://www.ncbi.nlm.nih.gov/books/NBK6448/)
- National Eye Institute: Age-Related Macular Degeneration (https://nei.nih.gov/health/maculardegen/armd_facts)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK5201)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for FBLN5 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10516%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28FBLN5%5BTIAB%5D%29%20OR%20%28fibulin%205%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- FIBULIN 5 (http://omim.org/entry/604580)
- NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (http://omim.org/entry/608895)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/FBLN5ID46779ch14q32.html)
- HGNC Gene Family: Fibulins (http://www.genenames.org/cgi-bin/genefamilies/set/556)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=3602)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10516)
What other names do people use for the FBLN5 gene or gene products?
- developmental arteries and neural crest epidermal growth factor-like
- urine p50 protein
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding FBLN5?
autosomal dominant ;
autosomal recessive ;
connective tissue ;
extracellular matrix ;
growth factor ;
neural crest ;
You may find definitions for these and many other terms in the Genetics Home Reference
- 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. Epub 2006 Oct 11. (http://www.ncbi.nlm.nih.gov/pubmed/17035250?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/17324935?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/12189163?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/16652333?dopt=Abstract)
- 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. Epub 2003 Feb 28. (http://www.ncbi.nlm.nih.gov/pubmed/12618961?dopt=Abstract)
- 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. Epub 2006 Nov 14. (http://www.ncbi.nlm.nih.gov/pubmed/17109857?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10516)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/19167375?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/15269314?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/18267938?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.