Gene Symbol | FBLN5 |
Entrez Gene ID | 10516 |
Full Name | fibulin 5 |
Synonyms | ADCL2,ARCL1A,ARMD3,DANCE,EVEC,FIBL-5,HNARMD,UP50 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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 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. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Cutis laxa, autosomal recessive, type IA, 219100 (3); Cutis laxa, autosomal dominant 2, 614434 (3); Macular degeneration, age-related, 3, 608895 (3); Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3) |