Dermatan-sulfate epimerase-like protein (DSEL)

Dermatan-sulfate epimerase-like protein (DSEL) is an enzyme and protein-coding gene involved in the biosynthesis of dermatan sulfate, a glycosaminoglycan essential for normal extracellular matrix assembly and cell signaling[3][1]. DSEL is a homolog of dermatan-sulfate epimerase (DSE) and exhibits chondroitin-glucuronate C5-epimerase activity, converting glucuronic acid residues into iduronic acid residues in the chondroitin or dermatan sulfate chain, thus contributing to the formation and function of proteoglycans[1][3]. DSEL is mainly expressed in tissues like the brain and is implicated in glycosaminoglycan and chondroitin sulfate/dermatan sulfate metabolism[4][3]. Mutations or dysregulation of DSEL are associated with rare skeletal dysplasia syndromes (such as Eiken syndrome and Schneckenbecken dysplasia) and have been reported as a candidate gene in certain neuropsychiatric conditions, such as bipolar disorder, although its direct disease roles require further clarification[1][3]. DSEL does not currently have known clinically approved drugs targeting it, nor established mechanistic safety concerns or biomarker roles for patient selection or monitoring[3][1].

Other names

Dermatan-sulfate epimerase-like proteinDSELC18orf4NCAG1FLJ11477DE-epi2DS-epi2