Cyclophilin B ist ein Gen, das durch das Symbol PPIB kodiert wird. Andere Namen sind: Peptidyl-prolyl cis-trans isomerase B; PPIase B; CYP-S1; Rotamase B; S-cyclophilin; SCYLP; PPIB; CYPB. Cyclophilin B hat eine Masse von 23.74kDa, eine Aminosäurelänge von 216, und ist an Osteogenesis imperfecta 9 beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the cyclophilin-type PPIase family. PPIase B subfamily.
Zellort
Endoplasmic reticulum lumen. Melanosome.
Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065).
