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: 8884
MIM: 604024
HGNC: 11041
Ensembl: ENSG00000138074
Variants:
dbSNP: 8884
ClinVar: 8884
TCGA: ENSG00000138074
COSMIC: SLC5A6
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38012394 | 2024 | Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders. | 1 |
| 38012394 | 2024 | Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders. | 1 |
| 37391029 | 2023 | A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up. | 3 |
| 38036278 | 2023 | Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment. | 3 |
| 37391029 | 2023 | A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up. | 3 |
| 38036278 | 2023 | Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment. | 3 |
| 35013551 | 2022 | Novel biallelic variants expand the SLC5A6-related phenotypic spectrum. | 6 |
| 35013551 | 2022 | Novel biallelic variants expand the SLC5A6-related phenotypic spectrum. | 6 |
| 31894266 | 2020 | Integrated profiling identifies SLC5A6 and MFAP2 as novel diagnostic and prognostic biomarkers in gastric cancer patients. | 14 |
| 31894266 | 2020 | Integrated profiling identifies SLC5A6 and MFAP2 as novel diagnostic and prognostic biomarkers in gastric cancer patients. | 14 |
| 28052864 | 2017 | Lipopolysaccharide inhibits colonic biotin uptake via interference with membrane expression of its transporter: a role for a casein kinase 2-mediated pathway. | 7 |
| 28052864 | 2017 | Lipopolysaccharide inhibits colonic biotin uptake via interference with membrane expression of its transporter: a role for a casein kinase 2-mediated pathway. | 7 |
| 25809983 | 2015 | Major involvement of Na(+) -dependent multivitamin transporter (SLC5A6/SMVT) in uptake of biotin and pantothenic acid by human brain capillary endothelial cells. | 33 |
| 25971966 | 2015 | Interaction of α-Lipoic Acid with the Human Na+/Multivitamin Transporter (hSMVT). | 14 |
| 25999427 | 2015 | Salmonella infection inhibits intestinal biotin transport: cellular and molecular mechanisms. | 8 |
Citation
Dessen P
SLC5A6 (solute carrier family 5 member 6)
Atlas Genet Cytogenet Oncol Haematol. 2013-02-01
Online version: http://atlasgeneticsoncology.org/gene/53168/slc5a6
