Identity
HGNC
LOCATION
5q35.3
LOCUSID
ALIAS
EDSP1,EDSSLA,EDSSPD1,XGALT1,XGPT,XGPT1
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: 11285
MIM: 604327
HGNC: 930
Ensembl: ENSG00000027847
Variants:
dbSNP: 11285
ClinVar: 11285
TCGA: ENSG00000027847
COSMIC: B4GALT7
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38025683 | 2023 | Targeting B4GALT7 suppresses the proliferation, migration and invasion of hepatocellular carcinoma through the Cdc2/CyclinB1 and miR-338-3p/MMP2 pathway. | 0 |
| 38025683 | 2023 | Targeting B4GALT7 suppresses the proliferation, migration and invasion of hepatocellular carcinoma through the Cdc2/CyclinB1 and miR-338-3p/MMP2 pathway. | 0 |
| 31278392 | 2019 | Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. | 7 |
| 31614862 | 2019 | Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6. | 7 |
| 31278392 | 2019 | Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. | 7 |
| 31614862 | 2019 | Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6. | 7 |
| 26940150 | 2016 | Further defining the phenotypic spectrum of B4GALT7 mutations. | 16 |
| 26940150 | 2016 | Further defining the phenotypic spectrum of B4GALT7 mutations. | 16 |
| 24755949 | 2015 | Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. | 31 |
| 25568325 | 2015 | Probing the acceptor active site organization of the human recombinant β1,4-galactosyltransferase 7 and design of xyloside-based inhibitors. | 9 |
| 24755949 | 2015 | Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. | 31 |
| 25568325 | 2015 | Probing the acceptor active site organization of the human recombinant β1,4-galactosyltransferase 7 and design of xyloside-based inhibitors. | 9 |
| 24052259 | 2013 | Crystal structures of β-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate binding. | 21 |
| 24052259 | 2013 | Crystal structures of β-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate binding. | 21 |
| 20691685 | 2010 | Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS). | 8 |
Citation
Dessen P
B4GALT7 (beta-1,4-galactosyltransferase 7)
Atlas Genet Cytogenet Oncol Haematol. 2008-05-01
Online version: http://atlasgeneticsoncology.org/gene/50103/b4galt7-(beta-1-4-galactosyltransferase-7)
