NCBI Description of SERPINH1
|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.|
Community Annotation of SERPINH1 Add / Edit SERPINH1: Annotations
No community annotations yet for SERPINH1.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.