P3h1 prolyl 3-hydroxylase 1 [ Mus musculus (house mouse) ]
Source: NCBI Gene (ID 56401)
Symbol: P3h1
Full name: prolyl 3-hydroxylase 1
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Also known as: 2410024C15Rik; Gros1; Lepre1
Summary: Predicted to enable procollagen-proline 3-dioxygenase activity. Acts upstream of or within collagen fibril organization; negative regulation of cell growth; and regulation of ossification. Predicted to be located in basement membrane; cytoplasm; and nucleus. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including alimentary system; genitourinary system; limb mesenchyme; sensory organ; and skeleton. Used to study osteogenesis imperfecta type 8. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 8. Orthologous to human P3H1 (prolyl 3-hydroxylase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in limb E14.5 (RPKM 50.3), ovary adult (RPKM 44.1) and 24 other tissues
Orthologs: human
Gene size: 16063bp
Exon count: 17