| DSEL |
| LOCUS ID | 92126 | ||||||||||
| GENE_SYMBOL | DSEL | ||||||||||
| GENE NAME | dermatan sulfate epi | ||||||||||
| SYNONYMNS | C18orf4 | ||||||||||
| CHROMOSOME | 18 | ||||||||||
| HOMOLOGENE ID | 12964 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| DSEL (Dermatan Sulfate Epimerase Like) is a Protein Coding gene. Diseases associated with DSEL include Ehlers-Danlos Syndrome, Musculocontractural Type, 2 and Temtamy Preaxial Brachydactyly Syndrome. Among its related pathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and isomerase activity. An important paralog of this gene is DSE |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. Here we investigated the association of POL1-nearby variant rs488846, MALT1-nearby variant rs2874116, MC4R-nearby variant rs1942872, PHLPP rs9958800 and DSEL-nearby variant rs9966483 single nucleotide polymorphisms (SNPs) in the 18q region, previously linked with diabetic nephropathy (DN) in African-Americans, with T2DM in (North African) Tunisian subjects, followed by their association with DN, which was performed subsequent to the analysis of the association with T2DM. | 23727064 |