DPAGT1

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Identifiers
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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RefSeq (protein)

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UDP-N-acetylglucosamine—dolichyl-phosphate N-acetylglucosaminephosphotransferase is an enzyme that in humans is encoded by the DPAGT1 gene.[1][2]

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. PMC 4035711. 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.[2]

References

  1. Smith MW, Clark SP, Hutchinson JS, Wei YH, Churukian AC, Daniels LB, Diggle KL, Gen MW, Romo AJ, Lin Y, et al. (Dec 1993). "A sequence-tagged site map of human chromosome 11". Genomics. 17 (3): 699–725. doi:10.1006/geno.1993.1392. PMID 8244387.
  2. 2.0 2.1 "Entrez Gene: DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)".

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