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DS-epi1, DS-epi2, and D4ST1 form homomers and are all part of a hetero-oligomeric complex where D4ST1 directly interacts with DS-epi1, but not with DS-epi2. The cooperation of DS-epi1 with D4ST1 may therefore explain the processive mode of the formation of iduronic acid blocks.
Study showed that DSE is frequently upregulated in human glioma tissue and cell lines and associated with a worse tumor grade and poor overall survival. Its knockdown suppresses malignant phenotypes, whereas DSE overexpression enhances glioma cell malignancy, both in vitro and in vivo. Mechanically, DSE modulates HB-EGF-induced EGFR/ErbB2 activity and downstream signaling.
study identified a homozygous DSE missense mutation (c.803C>T, p.S268L) in a male child with musculocontractural type of Ehlers-Danlos syndrome; data indicate mutation affects the epimerase activity, resulting in reduced dermatan sulfate (DS) biosynthesis and an increased synthesis or an accumulation or reduced conversion of chondroitin sulfate
Dermatan sulfate epimerase 1 was highly upregulated in esophagus squamous cell carcinoma
Identification of the active site of DS-epimerase 1 and requirement of N-glycosylation for enzyme function.
Data show that dermatan sulfate is completely absent in dermatan sulfate epimerase 1 and 2 double knockout (DKO) mice.
The combination of defective collagen structure in the dermis and imbalanced keratinocyte maturation could be responsible for the observed developmental defects in DS-epi1-deficient mice.
DS-epi1-deficient mice show chondroitin sulfate /dermatan sulfate with a marked deficiency in iduronic acid-containing structures.
The protein encoded by this gene is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is localized to the endoplasmic reticulum. Two transcript variants encoding the same protein have been found for this gene.
, squamous cell carcinoma antigen recognized by T cells 2
, DS epimerase
, chondroitin-glucuronate 5-epimerase
, squamous cell carcinoma antigen recognized by T-cells 2
, squamous cell carcinoma antigen recognized by T cell