Cyclophilin B è un gene codificato dal simbolo PPIB. Altri nomi includono: Peptidyl-prolyl cis-trans isomerase B; PPIase B; CYP-S1; Rotamase B; S-cyclophilin; SCYLP; PPIB; CYPB. Cyclophilin B ha una massa di 23.74kDa, una lunghezza di amminoacidi di 216, ed è implicato in Osteogenesis imperfecta 9.
Offriamo 8 Cyclophilin B ELISA kit per il rilevamento qualitativo o quantitativo di Cyclophilin B da campioni di Umano, Topo, Ratto e Bovino.
Informazioni su geni e proteine
Riepilogo UniProt
PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding.
Sommario di Entrez
The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta.
Coinvolgimento nella malattia
Osteogenesis imperfecta 9: 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. OI9 is a severe autosomal recessive form of the disorder.
Somiglianze di sequenza
Belongs to the cyclophilin-type PPIase family. PPIase B subfamily.
Posizione cellulare
Endoplasmic reticulum lumen. Melanosome.
Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065).
