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Disease on EC 2.4.1.83 - dolichyl-phosphate beta-D-mannosyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Anemia, Hypochromic
DOLICHOL PHOSPHATE MANNOSE SYNTHASE1 mediates the biogenesis of isoprenyl-linked glycans and influences development, stress response, and ammonium hypersensitivity in Arabidopsis.
Congenital Disorders of Glycosylation
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
Exostoses
[Primary study on glycan structure in pathopoiesis mechanism of recurrent respiratory papillomatosis]
Hypersensitivity
DOLICHOL PHOSPHATE MANNOSE SYNTHASE1 mediates the biogenesis of isoprenyl-linked glycans and influences development, stress response, and ammonium hypersensitivity in Arabidopsis.
Infections
A newly cloned pig dolichyl-phosphate mannosyl-transferase for preventing the transmission of porcine endogenous retrovirus to human cells.
Trypanosomiasis, African
First small molecular inhibitors of T. brucei dolicholphosphate mannose synthase (DPMS), a validated drug target in African sleeping sickness.
Walker-Warburg Syndrome
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.