FBLN5


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Related to FBLN5: cutis laxa

FBLN5

A gene on chromosome 14q32.1 that encodes a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains, which promotes adhesion of endothelial cells by interaction of integrins and the RGD motif. The FBLN5 protein produced is expressed in intimal vascular smooth muscle cells and endothelial cells during vascular development, and in remodeling during atherosclerosis and after balloon-catheter-induced injury.

Molecular pathology
FBLN5 mutations cause cutis laxa type I and age-related macular degeneration type 3.
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References in periodicals archive ?
Mortier et al., "Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa," Human Molecular Genetics, vol.
Acetyl tetrapeptide-2 has not only been shown to increase the synthesis of elastin by 22%, but also encouraged its formation into functional fibers by raising LOXL1 and FBLN5 1.7 fold and 2.3 fold, respectively.
A serine to proline amino acid substitution in the fibulin 5 (FBLN5) gene has been associated with problems in normal elastogenesis, resulting
Likewise, upon analysis of the transcriptome of human RPE collected from aged healthy subjects, it was found that the RPE highly expresses genes of the complement cascade (e.g., C3, CFB, CFH, HTRA1, CST3, and FBLN5) [19].