ALG8 (ALG8 alpha-1,3-glucosyltransferase)

2014-11-01  

Identity

HGNC
LOCATION
11q14.1
LOCUSID
ALIAS
CDG1H,PCLD3
FUSION GENES

Other Information

Locus ID:

NCBI: 79053
MIM: 608103
HGNC: 23161
Ensembl: ENSG00000159063

Variants:

dbSNP: 79053
ClinVar: 79053
TCGA: ENSG00000159063
COSMIC: ALG8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159063ENST00000299626Q9BVK2
ENSG00000159063ENST00000299626A0A024R5K5
ENSG00000159063ENST00000376156Q9BVK2
ENSG00000159063ENST00000525755E9PK79
ENSG00000159063ENST00000525761E9PLP7
ENSG00000159063ENST00000525783H0YDQ1
ENSG00000159063ENST00000525870E9PKA5
ENSG00000159063ENST00000526737E9PP80
ENSG00000159063ENST00000526849H0YDV4
ENSG00000159063ENST00000527099E9PR58
ENSG00000159063ENST00000529139H0YD42
ENSG00000159063ENST00000530454E9PP96
ENSG00000159063ENST00000530608H0YCV0
ENSG00000159063ENST00000530910E9PP04
ENSG00000159063ENST00000532050E9PNE2
ENSG00000159063ENST00000532306H0YEE0
ENSG00000159063ENST00000532440H0YDD3
ENSG00000159063ENST00000615266Q9BVK2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
283751572017Isolated polycystic liver disease genes define effectors of polycystin-1 function.20
152350282004Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).8
260663422015ALG8-CDG: novel patients and review of the literature.8
196480402009Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.4
223068532012Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.1
245551852014Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.1
304207072019Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.0

Citation

Dessen P

ALG8 (ALG8 alpha-1,3-glucosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60255/alg8