Literature summary for 5.1.3.19 extracted from

Mueller, T.; Mizumoto, S.; Suresh, I.; Komatsu, Y.; Vodopiutz, J.; Dundar, M.; Straub, V.; Lingenhel, A.; Melmer, A.; Lechner, S.; Zschocke, J.; Sugahara, K.; Janecke, A.R.
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome (2013), Hum. Mol. Genet., 22, 3761-3772.

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Cloned(Commentary)

Cloned (Comment)	Organism
gene DSE, transient expression of wild-type and mutant enzymes in COS-7 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
S268L	a naturally occuring homozygous DSE mutation c.803C>T in a patient with 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	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
Chondroitin D-glucuronate	Homo sapiens	-	Dermatan L-iduronate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q8IZU8	-	-
Homo sapiens	Q9UL01	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
Chondroitin D-glucuronate	-	Homo sapiens	Dermatan L-iduronate	-	?

Synonyms

Synonyms	Comment	Organism
chondroitin-glucuronate C5-epimerase	-	Homo sapiens
dermatan sulfate epimerase	-	Homo sapiens
dermatan sulfate epimerase like	-	Homo sapiens
DS-epi1	-	Homo sapiens
DS-epi2	-	Homo sapiens
DSE	-	Homo sapiens
DSEL	-	Homo sapiens
SART2	-	Homo sapiens

General Information

General Information	Comment	Organism
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	Homo sapiens
metabolism	the enzyme catalyzes a step in dermatan sulfate and chondroitin sulfate biosynthesis, pathway overview	Homo sapiens
metabolism	the enzyme catalyzes a step in dermatan sulfate and chondroitin sulfte biosynthesis, pathway overview	Homo sapiens
physiological function	the enzyme is important in human development and extracellular matrix maintenance	Homo sapiens

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Release 2023.1 (January 2023)