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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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SERPINH1 / HSP47
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SERPINH1 / HSP47 is 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.
| Gene Name: | serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) |
| Synonyms: | SERPINH1, 47 kDa heat shock protein, AsTP3, Colligin, Colligin-1, Collagen-binding protein, Colligin-2, CBP1, HSP47, OI10, Serpin H1, SERPINH2, CBP2, Collagen-binding protein 1, Colligen, gp46, PIG14, PPROM, RA-A47 |
| Target Sequences: | NM_001235 NP_001226.2 P50454 |
Publications (3)
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