EC Number |
General Information |
Reference |
---|
5.1.3.19 | evolution |
conversion of GlcA residues into the stereoisomer IdoA is mediated by two dermatan sulfate epimerases, DSE (DS-epi1) and DSEL (DS-epi2) |
749050 |
5.1.3.19 | malfunction |
a naturally occuring homozygous DSE mutation c.803C>T, pS268L, causes musculocontractural type of Ehlers-Danlos syndrome, MCEDS. The mutant enzymes shows a loss of activity towards partially desulfated dermatan sulfate, patient-derived fibroblasts also show a significant reduction in epimerase activity. Dermatan sulfate disaccharides are reduced, while chondroitin sulfate disaccharides are increased in cultured fibroblasts. Stable transfection of patient fibroblasts with a DSE expression vector increases the amount of secreted dermatan sulfate disaccharides |
727608 |
5.1.3.19 | malfunction |
DS-epi1 deficiency alters skin morphology, collagen fibril ultrastructure, and skin tensile strength, phenotype, overview |
705699 |
5.1.3.19 | malfunction |
DS-epi2 is genetically linked to bipolar disorder, which suggests that the dermatan sulfate domains generated by a defective enzyme may be involved in the etiology of the disease |
704644 |
5.1.3.19 | metabolism |
the enzyme catalyzes a step in dermatan sulfate and chondroitin sulfate biosynthesis, pathway overview |
727608 |
5.1.3.19 | metabolism |
the enzyme catalyzes a step in dermatan sulfate and chondroitin sulfte biosynthesis, pathway overview |
727608 |
5.1.3.19 | metabolism |
the enzyme is involved in the chondroitin/dermatan sulfate biosynthesis, overview |
749050 |
5.1.3.19 | more |
enzyme Dsel harbors a C-terminal sulfotransferase-like domain |
749120 |
5.1.3.19 | more |
polysaccharide processivity opens up the possibility for an efficient formation of long stretches of IdoA, which have been shown to be of major importance for CS/DS regulatory effect on collagen fibrillization |
747527 |
5.1.3.19 | physiological function |
conversion of GlcA residues into the stereoisomer IdoA is mediated by two dermatan sulfate epimerases, DSE (DS-epi1) and DSEL (DS-epi2), modification reactions in chondroitin/dermatan sulfate biosynthesis, overview |
749050 |