SLC6A8 Chromosome X
Solute carrier family 6 member 8
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What This Gene Does
The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Solute carrier family 6
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000130821
Associated Conditions (12)
Creatine deficiency syndrome 1
Creatine transporter deficiency
Inborn genetic diseases
SLC6A8-related disorder
Intellectual disability
Abnormal facial shape
Low-set ears
Seizure
Neurodevelopmental disorder
Thyroid cancer
nonmedullary
1
Key Variants
RS1160275875
Conflicting classifications of pathogenicity
Creatine deficiency syndrome 1, Creatine transporter deficiency, Creatine deficiency syndrome 1
Health Risk
RS1233444890
Conflicting classifications of pathogenicity
Creatine transporter deficiency, Creatine transporter deficiency
Health Risk
RS1479462836
Conflicting classifications of pathogenicity
Creatine transporter deficiency, Creatine transporter deficiency
Health Risk
RS1557045456
Conflicting classifications of pathogenicity
Creatine transporter deficiency, Creatine transporter deficiency
Health Risk
RS1557045843
Conflicting classifications of pathogenicity
Creatine transporter deficiency, Inborn genetic diseases, Creatine transporter deficiency
Health Risk
RS2091477188
Conflicting classifications of pathogenicity
Creatine transporter deficiency, Creatine transporter deficiency
Health Risk
RS2091478800
Conflicting classifications of pathogenicity
Creatine transporter deficiency, Creatine transporter deficiency
Health Risk
RS370331295
Conflicting classifications of pathogenicity
Creatine transporter deficiency, Creatine transporter deficiency
Health Risk
RS781899045
Conflicting classifications of pathogenicity
Creatine transporter deficiency, Creatine transporter deficiency
Health Risk
RS782028471
Conflicting classifications of pathogenicity
Creatine transporter deficiency, Creatine deficiency syndrome 1, Inborn genetic diseases
Health Risk
RS782206415
Conflicting classifications of pathogenicity
Creatine transporter deficiency, Inborn genetic diseases, Creatine transporter deficiency
Health Risk
RS782326194
Conflicting classifications of pathogenicity
Creatine transporter deficiency, Inborn genetic diseases, Creatine transporter deficiency
Health Risk
All Variants (166)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2522168615 | Health Risk | Pathogenic | Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522168744 | Health Risk | Pathogenic | Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522168753 | Health Risk | Pathogenic | Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522169864 | Health Risk | Pathogenic | Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522170019 | Health Risk | Pathogenic | Creatine transporter deficiency, Creatine transporter deficiency |
| RS397515559 | Health Risk | Pathogenic | Creatine transporter deficiency, Creatine transporter deficiency |
| RS782433037 | Health Risk | Pathogenic | Creatine transporter deficiency, Creatine transporter deficiency |
| RS797045972 | Health Risk | Pathogenic | — |
| RS80338739 | Health Risk | Pathogenic | Creatine transporter deficiency, Inborn genetic diseases, Creatine transporter deficiency |
| RS80338740 | Health Risk | Pathogenic | Creatine transporter deficiency, Creatine transporter deficiency |
| RS886041818 | Health Risk | Pathogenic | Creatine transporter deficiency, Creatine transporter deficiency |
| RS886041845 | Health Risk | Pathogenic | — |
| RS886042005 | Health Risk | Pathogenic | — |
| RS1557045333 | Health Risk | Pathogenic/Likely pathogenic | Creatine transporter deficiency, Creatine transporter deficiency |
| RS2148363006 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Creatine transporter deficiency, Intellectual disability |
| RS782074069 | Health Risk | Pathogenic/Likely pathogenic | Creatine transporter deficiency, Creatine transporter deficiency |