Gene Symbol | ALG13 |
Entrez Gene ID | 79868 |
Full Name | ALG13, UDP-N-acetylglucosaminyltransferase subunit |
Synonyms | CDG1S,CXorf45,EIEE36,GLT28D1,MDS031,TDRD13,YGL047W |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 36, 300884 (3); ?Congenital disorder of glycosylation, type Is, 300884 (3) |