Protein Variants | Comment | Organism |
---|---|---|
additional information | A668G, higher apparent molecular mass, reduced collagen galctosyltransferase, EC 2.4.1.50, and about 80% reduced glucosyltransferase activity, about 50% decreased lysyl hydroxylase activity, EC 1.14.11.4 | Homo sapiens |
additional information | delT2071, lower apparent molecular mass, reduced collagen galctosyltransferase, EC 2.4.1.50, and about 50% reduced glucosyltransferase activity, complete loss of lysyl hydroxylase activity, EC 1.14.11.4 | Homo sapiens |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
80000 | - |
value about, Western blot | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
lymphoblastoid cell line | - |
Homo sapiens | - |
serum | - |
Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
25 DMP/microg soluble protein, control group, activitiy in lymphoblastoid cells | Homo sapiens |
additional information | - |
25 DPM/microl serum, patient with mutation of the lysyl hydroxylase 3 gene | Homo sapiens |
additional information | - |
5 DPM/microg soluble protein, patient with mutation of the lysyl hydroxylase 3 gene, activitiy in lymphoblastoid cells | Homo sapiens |
additional information | - |
800 DPM/microl serum, control group | Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | disorders of LH3 with a unique phenotype causing severe morbidity as a result of feauters that overlap with collagen disorders | Homo sapiens |
physiological function | forms part of the many posttranslational modifications required during collagen biosynthesis | Homo sapiens |