Protein Variants | Comment | Organism |
---|---|---|
additional information | null mutation of the prolyl 3-hydroxylase 1, P3H1/LEPRE1, gene cause OI type VIII, a recessive form of osteogenesis imperfecta with severe to lethal bone dysplasia and overmodification of the type I collagen helical region, interaction of complex components in fibroblasts, overview. P3H1 is mutually stabilized in the collagen prolyl 3-hydroxylation complex. Both P3H1 and CRTAP proteins are absent in CRTAP-null fibroblasts. Conversely, in LEPRE1-null fibroblasts, P3H1 protein is absent, while CRTAP is only minimally detectable | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
endoplasmic reticulum | collagen 3-hydroxylase complex | Homo sapiens | 5783 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q32P28 | gene LEPRE1 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
LEPRE1 | - |
Homo sapiens |
P3H1 | - |
Homo sapiens |
prolyl 3-hydroxylase 1 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | null mutation of the prolyl 3-hydroxylase 1, P3H1/LEPRE1, gene cause OI type VIII, a recessive form of osteogenesis imperfecta with severe to lethal bone dysplasia and overmodification of the type I collagen helical region, overview | Homo sapiens |