Identity
HGNC
LOCATION
3p25.3
LOCUSID
ALIAS
GABATHG,GABATR,GAT1,MAE
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: 6529
MIM: 137165
HGNC: 11042
Ensembl: ENSG00000157103
Variants:
dbSNP: 6529
ClinVar: 6529
TCGA: ENSG00000157103
COSMIC: SLC6A1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38663152 | 2024 | Beyond the Diagnosis: Evaluation of Quality-of-Life Measures and Family Functioning in SLC6A1-Related Neurodevelopmental Disorder. | 0 |
| 38663152 | 2024 | Beyond the Diagnosis: Evaluation of Quality-of-Life Measures and Family Functioning in SLC6A1-Related Neurodevelopmental Disorder. | 0 |
| 36674476 | 2023 | Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1. | 1 |
| 36947544 | 2023 | Ketone bodies promote stroke recovery via GAT-1-dependent cortical network remodeling. | 2 |
| 37501613 | 2023 | Patient-derived SLC6A1 variant S295L results in an epileptic phenotype similar to haploinsufficient mice. | 0 |
| 37540943 | 2023 | Assessing the impact of the de novo SLC6A1 mutation in schizophrenia through a comprehensive case study. | 0 |
| 37647852 | 2023 | SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis. | 1 |
| 36674476 | 2023 | Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1. | 1 |
| 36947544 | 2023 | Ketone bodies promote stroke recovery via GAT-1-dependent cortical network remodeling. | 2 |
| 37501613 | 2023 | Patient-derived SLC6A1 variant S295L results in an epileptic phenotype similar to haploinsufficient mice. | 0 |
| 37540943 | 2023 | Assessing the impact of the de novo SLC6A1 mutation in schizophrenia through a comprehensive case study. | 0 |
| 37647852 | 2023 | SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis. | 1 |
| 34006619 | 2022 | Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1. | 16 |
| 35676483 | 2022 | Structural basis of GABA reuptake inhibition. | 23 |
| 35741759 | 2022 | New Genetic Variants in CYP2B6 and SLC6A Support the Role of Oxidative Stress in Familial Ménière's Disease. | 4 |
Citation
Dessen P
SLC6A1 (solute carrier family 6 member 1)
Atlas Genet Cytogenet Oncol Haematol. 2013-01-01
Online version: http://atlasgeneticsoncology.org/gene/53134/slc6a1
