Cyclophilin B est un gène codé par le symbole PPIB. D'autres noms incluent: Peptidyl-prolyl cis-trans isomerase B; PPIase B; CYP-S1; Rotamase B; S-cyclophilin; SCYLP; PPIB; CYPB. Cyclophilin B a une masse de 23.74kDa, une longueur d'acide aminé de 216, et est impliqué dans Osteogenesis imperfecta 9.
Nous proposons 8 Cyclophilin B kits ELISA pour la détection qualitative ou quantitative de Cyclophilin B à partir d'échantillons Humain, Souris, Rat et Bovin.
Informations sur les Gènes et les Protéines
Résumé UniProt
PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding.
Résumé 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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the cyclophilin-type PPIase family. PPIase B subfamily.
Localisation cellulaire
Endoplasmic reticulum lumen. Melanosome.
Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065).
