Identity
HGNC
LOCATION
13q12.3
LOCUSID
ALIAS
B3GALTL,B3GTL,B3Glc-T,Gal-T,beta3Glc-T
FUSION GENES
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: 145173
MIM: 610308
HGNC: 20207
Ensembl: ENSG00000187676
Variants:
dbSNP: 145173
ClinVar: 145173
TCGA: ENSG00000187676
COSMIC: B3GLCT
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000187676 | ENST00000343307 | Q6Y288 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34058199 | 2021 | Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase. | 4 |
| 34695439 | 2021 | Loss of the AMD-associated B3GLCT gene affects glycosylation of TSP1 without impairing secretion in retinal pigment epithelial cells. | 1 |
| 34058199 | 2021 | Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase. | 4 |
| 34695439 | 2021 | Loss of the AMD-associated B3GLCT gene affects glycosylation of TSP1 without impairing secretion in retinal pigment epithelial cells. | 1 |
| 32204707 | 2020 | Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report. | 1 |
| 32204707 | 2020 | Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report. | 1 |
| 27049305 | 2016 | Clinical utility gene card for: Peters plus syndrome. | 2 |
| 27049305 | 2016 | Clinical utility gene card for: Peters plus syndrome. | 2 |
| 25544610 | 2015 | Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism. | 46 |
| 25544610 | 2015 | Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism. | 46 |
| 23889335 | 2014 | Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. | 22 |
| 23889335 | 2014 | Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. | 22 |
| 23954224 | 2013 | First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome. | 1 |
| 23954224 | 2013 | First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome. | 1 |
| 22759511 | 2012 | Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure. | 4 |
Citation
Dessen P
B3GLCT (beta 3-glucosyltransferase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60679/b3glct-(beta-3-glucosyltransferase)
