SERPINH1 Antibody – Mouse Monoclonal

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]

SERPINH1: Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen. Defects in SERPINH1 are the cause of osteogenesis imperfecta type 10 (OI10). A connective tissue disorder characterized by bone fragility, low bone mass, bowing of limbs due to multiple fractures, short limb dwarfism and blue sclerae. Belongs to the serpin family.

Chromosomal Location of Human Ortholog: 11q13.5

Cellular Component: extracellular space; endoplasmic reticulum; endoplasmic reticulum lumen; ER-Golgi intermediate compartment

Molecular Function: serine-type endopeptidase inhibitor activity; collagen binding; unfolded protein binding

Biological Process: extracellular matrix organization and biogenesis; collagen fibril organization; protein maturation; collagen biosynthetic process; response to unfolded protein

Disease: Osteogenesis Imperfecta, Type X; Preterm Premature Rupture Of The Membranes