Function
Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
Biological Context
Subcellular Location: Endoplasmic reticulum lumen
Disease Association: Osteogenesis imperfecta 10 (OI10) : A form of osteogenesis imperfecta, a disorder of bone formation 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. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Serpin H1 (SERPINH1) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 19-418aa, with N-terminal 10xHis-tagged tag, molecular weight 50.6kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
