RecName: Full=Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltra - Protein

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Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant. [Int J Mol Sci. 2024]
Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.
Monson E, Cideciyan AV, Roman AJ, Sumaroka A, Swider M, Wu V, Viarbitskaya I, Jacobson SG, Fliesler SJ, Pittler SJ. Int J Mol Sci. 2024 Jan 13; 25(2). Epub 2024 Jan 13.
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. [J Inherit Metab Dis. 2016]
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, et al. J Inherit Metab Dis. 2016 Sep; 39(5):713-723. Epub 2016 Jun 10.
Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene. [Genet Test Mol Biomarkers. 2012]
Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene.
Goreta SS, Dabelic S, Pavlinic D, Lauc G, Dumic J. Genet Test Mol Biomarkers. 2012 Jan; 16(1):50-3. Epub 2011 Sep 7.

RefSeq genomic sequence
See the genomic reference sequence for the ALG6 gene (NG_008925.2).
RefSeq protein
See the reference protein sequence for dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase (NP_037471.2).

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Q9Y672 [Domain Mapping of Disease Mut...]
Q9Y672
Domain Mapping of Disease Mutations
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase; ...
RecName: Full=Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase; AltName: Full=Asparagine-linked glycosylation protein 6 homolog; AltName: Full=Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase; AltName: Full=Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
gi|1248281080|sp|Q9Y672.2|ALG6_HUMA

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