Gene table of ALG14 : ALG14, UDP-N-acetylglucosaminyltransferase subunit

Gene-disease associations table

Disease IDDisease nameSource of annotation with ALG14OMIM linkNumber of associated genesgenes
PS601462MYASTHENIC SYNDROME, CONGENITALClinVar, OMIM, HUMSAVAR link to OMIM 23LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2

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Annotation of the gene ALG14

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
N-Glycan biosynthesishsa005107.07
Metabolic pathwayshsa011002.49
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinR-HSA-4461936.92
Metabolism of proteinsR-HSA-3924993.41
Asparagine N-linked glycosylationR-HSA-4462036.1
Diseases of glycosylationR-HSA-37818656.89
Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)R-HSA-563323111.98
Post-translational protein modificationR-HSA-5975924.54
Diseases associated with N-glycosylation of proteinsR-HSA-37818608.89
DiseaseR-HSA-16436853.33
Associated GO terms for Molecular function
GO termGO IDGO IC
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
GO:00045779.05
transferase activity, transferring glycosyl groupsGO:00167574.08
transferase activity, transferring hexosyl groupsGO:00167584.43
acetylglucosaminyltransferase activityGO:00083755.85
UDP-glycosyltransferase activityGO:00081944.81