Species Human Entrez 1798 | Human Mouse Ensembl ENSG00000172269 | |
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Aliases DPAGT1, ALG7, CDG-Ij, CDG1J, CMSTA2, D11S366, DGPT, DPAGT, DPAGT2, G1PT, GPT, UAGT, UGAT, CMS13, dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 External IDs MGI: 1196396 HomoloGene: 1058 GeneCards: DPAGT1 | ||
UDP-N-acetylglucosamine—dolichyl-phosphate N-acetylglucosaminephosphotransferase is an enzyme that in humans is encoded by the DPAGT1 gene.
Mutations in DPAGT1 cause myasthenia .Selcen, D; Shen, X. M.; Brengman, J; Li, Y; Stans, A. A.; Wieben, E; Engel, A. G. (2014). "DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies". Neurology. 82 (20): 1822–30. doi:10.1212/WNL.0000000000000435. PMID 24759841.
The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway (also see Genetic pathway) for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. Alternatively spliced transcript variants encoding different isoforms have been identified.