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ALG14 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.
Gene Name: | ALG14, UDP-N-acetylglucosaminyltransferase subunit |
Synonyms: | ALG14 |
Target Sequences: | Q96F25 Q96F25 |
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