This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
Full Name
Serpin Family H Member 1
Function
Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
Biological Process
Biological Process chondrocyte development involved in endochondral bone morphogenesisIEA:Ensembl Biological Process collagen biosynthetic processIEA:Ensembl Biological Process collagen fibril organizationManual Assertion Based On ExperimentIBA:GO_Central Biological Process negative regulation of endopeptidase activityManual Assertion Based On ExperimentIBA:GO_Central Biological Process protein maturationIEA:Ensembl Biological Process response to unfolded proteinManual Assertion Based On ExperimentTAS:ProtInc
Cellular Location
Endoplasmic reticulum lumen
Involvement in disease
Endoplasmic reticulum lumen: 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. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae.
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