fibulin-5 (FIBL-5, developmental arteries & neural crest EGF-like protein, Dance, urine p50 protein, UP50, FBLN5, UNQ184/PRO210)

Function

• promotes adhesion of endothelial cells through interaction of integrins & the RGD motif
• vascular ligand for integrin receptors
• vascular development & remodeling (putative)

Compartment

secreted

Expression

• expressed in heart, ovary, colon > kidney, pancreas, testis, lung, placenta
• not expressed in brain, liver, thymus, prostate, peripheral blood leukocytes

Pathology

• defects in FBLN5 are associated with cutis laxa (autosomal dominant & autosomal recessive)
• defects in FBLN5 are associated with age-related macular degeneration 3 (ARMD3)

More general terms

• fibulin

Database

• OMIM: https://mirror.omim.org/entry/123700
• OMIM: https://mirror.omim.org/entry/219100
• OMIM: https://mirror.omim.org/entry/604580
• OMIM: https://mirror.omim.org/entry/608895
• UniProt: http://www.uniprot.org/uniprot/Q9UBX5.html