Aliases for ALG14 Gene
External Ids for ALG14 Gene
Previous GeneCards Identifiers for ALG14 Gene
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]
GeneCards Summary for ALG14 Gene
ALG14 (ALG14 UDP-N-Acetylglucosaminyltransferase Subunit) is a Protein Coding gene. Diseases associated with ALG14 include Myasthenic Syndrome, Congenital, 15 and Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies. Among its related pathways are N-Glycan biosynthesis and Metabolism of proteins.
UniProtKB/Swiss-Prot Summary for ALG14 Gene
May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER.