Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 29929
MIM: 604566
HGNC: 23157
Ensembl: ENSG00000088035
Variants:
dbSNP: 29929
ClinVar: 29929
TCGA: ENSG00000088035
COSMIC: ALG6
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38256083 | 2024 | Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant. | 0 |
| 38256083 | 2024 | Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant. | 0 |
| 32407885 | 2020 | Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype. | 4 |
| 32407885 | 2020 | Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype. | 4 |
| 27287710 | 2016 | ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. | 19 |
| 27287710 | 2016 | ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. | 19 |
| 21899441 | 2012 | Frequency 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. | 3 |
| 21899441 | 2012 | Frequency 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. | 3 |
| 16321363 | 2006 | Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation. | 6 |
| 16321363 | 2006 | Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation. | 6 |
| 11875054 | 2002 | A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. | 16 |
| 11875054 | 2002 | A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. | 16 |
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)
