SERPINH1

SERPINH1

A gene on chromosome 11q13.5 that encodes a member of the serpin superfamily of serine proteinase inhibitors that localises to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone.

Molecular pathology
Anti-SERPINH1 autoantibodies occur in patients with rheumatoid arthritis. SERPINH1 expression may be a marker for cancer. Nucleotide polymorphisms may be linked to pre-term labour due to premature rupture of membranes.
References in periodicals archive ?
Although OI-3 is rare, studies in affected persons from different parts of the world have revealed causative mutations in several genes: CRTAP, P3H1, FKBP10, PPIB, SERPINH1, SERPINF1, BMP1, SP7, WNT1, TMEM38B, PLOD2 and CREB3L1.
25-27] In the forms of AR OI-3 in which collagen is not over-modified, mutations were identified in the FKBP10 and SERPINH1 genes, which chaperone the collagen heterotrimer through the endoplasmic reticulum.
Tambien modificadores de la sintesis de colageno como LOXL1 y SERPINH1, proteinas que remodelan la matriz extracelular como MMP2, MMP9, MMP14, PLAU y TIMP2 y factor de crecimiento de tejido conectivo (CTGF).