Cloned (Comment) | Organism |
---|---|
gene PLOD3, DNA and amino acid sequence determination and analysis, quantitative expression analysis | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A1011G | naturally occuring heterozygous polymorphism in gene PLOD3 | Homo sapiens |
A195G | naturally occuring polymorphism in gene PLOD3 | Homo sapiens |
A434G | naturally occuring polymorphism in gene PLOD3 | Homo sapiens |
C882T | naturally occuring heterozygous polymorphism in gene PLOD3 | Homo sapiens |
additional information | glucosyltransferase, GGT, deficiency in heterozygous LH3 knock-out mouse embryonic fibroblasts affects the extracellular matrix deposition and the arrangement of the cytoskeleton, phenotype, overview. LH3 knock-out embryos and embryonic fibroblasts indicate that the loss of hydroxylysine glycosylation prevents the assembly and secretion of type IV and VI collagens, LH mutant mice show ultrastructural alterations in their skin and muscle | Homo sapiens |
additional information | glucosyltransferase, GGT, deficiency, e.g. in the Finnish epidermolysis bullosa simplex family, due to a transcriptional defect in one LH3 allele affects the extracellular matrix deposition and the arrangement of the cytoskeleton in skin fibroblasts, phenotype, overview | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
endoplasmic reticulum | - |
Homo sapiens | 5783 | - |
extracellular space | - |
Homo sapiens | 5615 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | lysyl hydroxylase catalyzes the posttranslational formation of hydroxylysines in -X-Lys-Gly- sequences in collagens and other proteins with collagen-like domains | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Homo sapiens | O60568 | isozyme LH3, gene PLOD3 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |
skin | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | lysyl hydroxylase catalyzes the posttranslational formation of hydroxylysines in -X-Lys-Gly- sequences in collagens and other proteins with collagen-like domains | Homo sapiens | ? | - |
? | |
additional information | LH3 differs from the other lysyl hydroxylase isoforms in that it possesses, in addition to lysyl hydroxylase activity, hydroxylysyl galactosyltransferase and galactosylhydroxylysyl glucosyltransferase activities, thus LH3 is able to catalyze the formation of glucosylgalactosylhydroxylysine residues | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
lysyl hydroxylase 3 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix | Homo sapiens |
malfunction | reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix. Mutations in the human LH3 gene cause a severe connective tissue disorder with features that overlap with a number of collagen disorders | Homo sapiens |
physiological function | the enzyme LH3 has an important role in the organization of the extracellular matrix and the cytoskeleton | Homo sapiens |