ALG6 (ALG6 alpha-1,3-glucosyltransferase)

2014-08-01  

Identity

HGNC
LOCATION
1p31.3
LOCUSID
ALIAS
CDG1C
FUSION GENES

Other Information

Locus ID:

NCBI: 29929
MIM: 604566
HGNC: 23157
Ensembl: ENSG00000088035

Variants:

dbSNP: 29929
ClinVar: 29929
TCGA: ENSG00000088035
COSMIC: ALG6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000088035ENST00000263440Q9Y672
ENSG00000088035ENST00000487136R4GMS5
ENSG00000088035ENST00000603108S4R350
ENSG00000088035ENST00000647818A0A3B3ITD6
ENSG00000088035ENST00000648964A0A3B3ITL6
ENSG00000088035ENST00000649570A0A3B3ITI5
ENSG00000088035ENST00000650494A0A3B3IS62

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
N-Glycan biosynthesisKEGGko00510
N-Glycan biosynthesisKEGGhsa00510
Metabolic pathwaysKEGGhsa01100
N-glycan precursor biosynthesisKEGGhsa_M00055
N-glycan precursor biosynthesisKEGGM00055
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193

References

Pubmed IDYearTitleCitations
118750542002A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.12
163213632006Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.5
272877102016ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.3
218994412012Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene.2

Citation

Dessen P

ALG6 (ALG6 alpha-1,3-glucosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54118/alg6-(alg6-alpha-1-3-glucosyltransferase)