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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 (show NPC2 Antibodies)-deficient mice.
DS-epi1 (show NPC2 Antibodies)-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