SERPINH1
Function
Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the serpin family.
Cellular localization
- Endoplasmic reticulum lumen
Alternative names
CBP1, CBP2, HSP47, SERPINH2, PIG14, SERPINH1, Serpin H1, 47 kDa heat shock protein, Arsenic-transactivated protein 3, Cell proliferation-inducing gene 14 protein, Collagen-binding protein, Rheumatoid arthritis-related antigen RA-A47, AsTP3, Colligin