PEDF est un gène codé par le symbole SERPINF1. Communément appelé aussi: Pigment epithelium-derived factor; Cell proliferation-inducing gene 35 protein; EPC-1; Serpin F1; SERPINF1. PEDF a une masse de 46.31kDa, une longueur d'acide aminé de 418, et est impliqué dans Osteogenesis imperfecta 6.
Nous proposons 4 PEDF protéines
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Spécificité tissulaire
Retinal pigment epithelial cells and blood plasma.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the serpin family.
Modification post-traductionnelle
The N-terminus is blocked. Extracellular phosphorylation enhances antiangiogenic activity.
Localisation cellulaire
Secreted. Melanosome.
Enriched in stage I melanosomes.
Liens de base de données
