Cloned (Comment) | Organism |
---|---|
DNA and amino acid sequence determination and analysis of mutant DNA from an Ehlers-Danlos syndrome type IVA patient, expression of mutant enzyme W446G in an insect cell system via baculovirus infection | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
W446G | naturally occurring mutation T1360G in a highly conserved region of exon 13 of isozyme LH1 in skin fibroblasts is predicted to lead to the W446G exchange in heterozygous Ehlers-Danlos syndrome type IVA, leads to loss of enzyme activity and causes the pathogenic effect probably due to incorect folding of isozyme LH1, structure-function analysis | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | Ehlers-Danlos syndrome type VIA patients show highly reduced enzyme activity | ? | - |
? | |
procollagen L-lysine + 2-oxoglutarate + O2 | Homo sapiens | - |
procollagen 5-hydroxy-L-lysine + succinate + CO2 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
isozyme lysyl hydroxylase 1, i.e. LH1, Ehlers-Danlos syndrome type VIA patients | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | skin | Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Ehlers-Danlos syndrome type VIA patients show highly reduced enzyme activity | Homo sapiens | ? | - |
? | |
procollagen L-lysine + 2-oxoglutarate + O2 | - |
Homo sapiens | procollagen 5-hydroxy-L-lysine + succinate + CO2 | - |
? |
Synonyms | Comment | Organism |
---|---|---|
LH | - |
Homo sapiens |
lysyl hydroxylase | - |
Homo sapiens |