{"symbol":"ALG14","synonyms":["CMS15"],"name":"ALG14, UDP-N-acetylglucosaminyltransferase subunit","description":"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]","ncbiEntrezGeneId":199857,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/199857","proteins":[{"symbol":"ALG14_HUMAN","href":"/api/1.0/protein/ALG14_HUMAN"}],"hgncRootFamilies":[{"name":"Glycosyltransferases","href":"/api/1.0/gene_family/Glycosyltransferases"}]}