PEDF ist ein Gen, das durch das Symbol SERPINF1 kodiert wird. Im Allgemeinen auch bezeichnet als: Pigment epithelium-derived factor; Cell proliferation-inducing gene 35 protein; EPC-1; Serpin F1; SERPINF1. PEDF hat eine Masse von 46.31kDa, eine Aminosäurelänge von 418, und ist an Osteogenesis imperfecta 6 beteiligt.
Wir bieten 4 PEDFproteine an
Gen- und Proteininformationen
UniProt Zusammenfassung
Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity.
Entrez Zusammenfassung
This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI.
Gewebespezifität
Retinal pigment epithelial cells and blood plasma.
Rolle bei Krankheiten
Osteogenesis imperfecta 6: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI6 is a severe, autosomal recessive form compatible with OI type III in the Sillence classification.
Sequenzähnlichkeiten
Belongs to the serpin family.
Posttranslationale Modifikation
The N-terminus is blocked. Extracellular phosphorylation enhances antiangiogenic activity.
Zellort
Secreted. Melanosome.
Enriched in stage I melanosomes.
