DSE Rabbit Polyclonal Antibody, 100ul Centrifuges Defects in some of the

Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease

This gene has multiple transcript variants which are predicted to encode distinct isoforms

2001 [PubMed 11165019])

down-regulated by phorbol 12-myristate 13-acetate

DSE Rabbit Polyclonal Antibody, 100ul Centrifuges Defects in some of theThe protein encoded by this gene is a tumor rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D glucuronic acid to L iduronic acid during the biosynthesis of dermatan sulfate. 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. Mutations in this gene cause inmusculocontractural