基因名:
FBLN5
产品别名:
ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC; FIBL-5; HNARMD; UP50; FBLN5; fibulin 5; fibulin 5; fibulin-5; developmental arteries and neural crest EGF-like protein; embryonic vascular EGF-like repeat-containing protein; testis tissue sperm-binding protein Li 75n; urine p50 protein; 衰老关键蛋白; 衰老关键蛋白5(FBLN5);
背景信息:
Fibulin 5: A protein that belongs to a family of extracellular proteins expressed in the basement membranes of blood vessels. Fibulin 5 may be essential for the polymerization of elastin. Missense mutations in FBLN5, the gene that encodes fibulin 5, appear responsible for 1-2% of cases of age-related macular degeneration (AMD). FBLN5 is located on chromosome 14 in band 14q32.1. See also: Fibulin 3. May play a role in vascular growth and maturation during development and in lesions of injured vessels.