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: 6535
MIM: 300036
HGNC: 11055
Ensembl: ENSG00000130821
Variants:
dbSNP: 6535
ClinVar: 6535
TCGA: ENSG00000130821
COSMIC: SLC6A8
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37850681 | 2024 | Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation. | 0 |
| 38452609 | 2024 | ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. | 0 |
| 38531017 | 2024 | Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8). | 0 |
| 37850681 | 2024 | Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation. | 0 |
| 38452609 | 2024 | ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. | 0 |
| 38531017 | 2024 | Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8). | 0 |
| 37708665 | 2023 | X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease. | 1 |
| 37708665 | 2023 | X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease. | 1 |
| 35588794 | 2022 | Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome. | 1 |
| 35588794 | 2022 | Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome. | 1 |
| 32990357 | 2021 | Oxidative phosphorylation in creatine transporter deficiency. | 2 |
| 33164824 | 2021 | Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder. | 1 |
| 33990217 | 2021 | SLC6A8-mediated intracellular creatine accumulation enhances hypoxic breast cancer cell survival via ameliorating oxidative stress. | 11 |
| 32990357 | 2021 | Oxidative phosphorylation in creatine transporter deficiency. | 2 |
| 33164824 | 2021 | Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder. | 1 |
Citation
Dessen P
SLC6A8 (solute carrier family 6 member 8)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73479/slc6a8-(solute-carrier-family-6-member-8)
