RecName: Full=Putative bifunctional UDP-N-acetylglucosamine transferas - Protein

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ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. [J Inherit Metab Dis. 2021]
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, et al. J Inherit Metab Dis. 2021 Jul; 44(4):1001-1012. Epub 2021 Mar 26.
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. [J Inherit Metab Dis. 2021]
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, et al. J Inherit Metab Dis. 2021 Jul; 44(4):987-1000. Epub 2021 Mar 1.
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. [Epilepsia. 2021]
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross JH, Heron B, Kaminska A, Korff CM, Lepine A, et al. Epilepsia. 2021 Feb; 62(2):325-334. Epub 2021 Jan 7.

RefSeq genomic sequence
See the genomic reference sequence for the ALG13 gene (NG_016238.1).
RefSeq protein isoforms
See 73 reference sequence protein isoforms for the ALG13 gene.

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Q9NP73 [Domain Mapping of Disease Mut...]
Q9NP73
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Putative bifunctional UDP-N-acetylglucosamine transferase and deub...
RecName: Full=Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13; AltName: Full=Asparagine-linked glycosylation 13 homolog; AltName: Full=Glycosyltransferase 28 domain-containing protein 1; AltName: Full=UDP-N-acetylglucosamine transferase subunit ALG13 homolog
gi|298286785|sp|Q9NP73.2|ALG13_HUMA

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