Gene Symbol | ALG14 |
Entrez Gene ID | 199857 |
Full Name | ALG14, UDP-N-acetylglucosaminyltransferase subunit |
Synonyms | CMS15 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]. |
Disorder MIM: | |
Disorder Html: | ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 (3) |