Identity
HGNC
LOCATION
1p36.33
LOCUSID
ALIAS
ALGAZ,EDSP2,EDSSPD2,SEMDJL1,beta3GalT6
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: 126792
MIM: 615291
HGNC: 17978
Ensembl: ENSG00000176022
Variants:
dbSNP: 126792
ClinVar: 126792
TCGA: ENSG00000176022
COSMIC: B3GALT6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000176022 | ENST00000379198 | Q96L58 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38065100 | 2024 | B3GALT6 promotes dormant breast cancer cell survival and recurrence by enabling heparan sulfate-mediated FGF signaling. | 1 |
| 38065100 | 2024 | B3GALT6 promotes dormant breast cancer cell survival and recurrence by enabling heparan sulfate-mediated FGF signaling. | 1 |
| 32517548 | 2021 | Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease. | 4 |
| 33631843 | 2021 | Keratoconus in a patient with B3GALT6-related disorder. | 1 |
| 34159694 | 2021 | Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. | 1 |
| 32517548 | 2021 | Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease. | 4 |
| 33631843 | 2021 | Keratoconus in a patient with B3GALT6-related disorder. | 1 |
| 34159694 | 2021 | Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. | 1 |
| 31614862 | 2019 | Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6. | 7 |
| 31614862 | 2019 | Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6. | 7 |
| 29443383 | 2018 | A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations. | 4 |
| 29931299 | 2018 | Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. | 17 |
| 29443383 | 2018 | A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations. | 4 |
| 29931299 | 2018 | Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. | 17 |
| 23664117 | 2013 | Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. | 42 |
Citation
Dessen P
B3GALT6 (beta-1,3-galactosyltransferase 6)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60678/b3galt6-(beta-1-3-galactosyltransferase-6)
