SERPINH1 gene

serpin family H member 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.

From NCBI Gene:

  • Osteogenesis imperfecta type 10
  • Preterm premature rupture of membranes

From UniProt:

Osteogenesis imperfecta 10 (OI10): 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. [MIM:613848]

Cytogenetic Location: 11q13.5, which is the long (q) arm of chromosome 11 at position 13.5

Molecular Location: base pairs 75,562,056 to 75,572,804 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q13.5, which is the long (q) arm of chromosome 11 at position 13.5
  • AsTP3
  • CBP1
  • CBP2
  • gp46
  • HSP47
  • OI10
  • PIG14
  • PPROM
  • RA-A47
  • SERPINH2