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	additional information	enzyme Dsel harbors a C-terminal sulfotransferase-like domain	749120	
5.1.3.19	additional information	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