Fibulin-5 (also known as DANCE (developmental arteries and neural crest epidermal growth factor (EGF)-like)) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''FBLN5''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
The protein encoded by this gene is a secreted, extracellular matrix protein containing an
Arg-Gly-Asp (RGD) motif and
calcium-binding EGF-like domains. It promotes adhesion of
endothelial cells
The endothelium (: endothelia) is a single layer of squamous endothelial cells that line the interior surface of blood vessels and lymphatic vessels. The endothelium forms an interface between circulating blood or lymph in the lumen and the res ...
through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling.
Interactions
FBLN5 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization advocating for the legal and human rights of children with intersex traits. The organization was founded in 2006 and fo ...
with
LOXL1
Lysyl oxidase homolog 1, also known as LOXL1, is an enzyme which in humans is encoded by the ''LOXL1'' gene.
Function
This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogene ...
and apolipoprotein(a).
Clinical relevance
FBLN5 mutations have been described in patients with age-related
macular degeneration
Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical condition which may result in blurred vision, blurred or vision loss, no vision in the center of the visual field. Early on there are often no sym ...
, as well as being involved in
Charcot-Marie-Tooth neuropathies.
References
Further reading
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External links
GeneReview/NIH/UW entry on FBLN5-Related Cutis Laxa
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