Serpinh1 serine (or cysteine) peptidase inhibitor, clade H, member 1 [ Mus musculus (house mouse) ]
Source: NCBI Gene (ID 12406)
Source: NCBI Gene (ID 12406)
Symbol: Serpinh1
Full name: serine (or cysteine) peptidase inhibitor, clade H, member 1
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Also known as: BERF-1; Cbp1; Cbp2; Hsp47; J6; Serpinh2; gp46
Summary: Enables unfolded protein binding activity. Acts upstream of or within several processes, including chondrocyte development involved in endochondral bone morphogenesis; collagen biosynthetic process; and collagen fibril organization. Located in endoplasmic reticulum. Is expressed in several structures, including central nervous system; embryo mesenchyme; eye; lower jaw tooth; and skeleton. Used to study osteogenesis imperfecta type 10. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 10 and preterm premature rupture of the membranes. Orthologous to human SERPINH1 (serpin family H member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in limb E14.5 (RPKM 483.4), ovary adult (RPKM 448.6) and 19 other tissues
Orthologs: human
Gene size: 7899bp
Exon count: 7