PEDF è un gene codificato dal simbolo SERPINF1. Comunemente indicato anche come: Pigment epithelium-derived factor; Cell proliferation-inducing gene 35 protein; EPC-1; Serpin F1; SERPINF1. PEDF ha una massa di 46.31kDa, una lunghezza di amminoacidi di 418, ed è implicato in Osteogenesis imperfecta 6.
Offriamo 4 proteine PEDF
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
Retinal pigment epithelial cells and blood plasma.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the serpin family.
Modifica post-translazionale
The N-terminus is blocked. Extracellular phosphorylation enhances antiangiogenic activity.
Posizione cellulare
Secreted. Melanosome.
Enriched in stage I melanosomes.
