Gene
SLC6A8
solute carrier family 6 member 8
- HGNC 11055(opens in a new tab)
- Ensembl gene ENSG00000130821(opens in a new tab)
- NCBI Gene 6535(opens in a new tab)
Summary
- Cytogenetic location
- Xq28
- Coordinates
- Chromosome X: 153,687,926–153,696,588 (GRCh38)
- Exons
- 13 exons across 8.7 kb
- Protein
- 635 amino acids
- Also known as
- CRTR, CT1, CRT, CRT-1, CRT1
- MANE Select transcript
- ENST00000253122.10NM_005629.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Cerebral Creatine Deficiency Syndromes
- Cerebral Creatine Deficiency Syndrome
Includes GAMT and AGAT deficiency (autosomal recessive) and creatine transporter deficiency (SLC6A8, X-linked), which can cause intellectual disability, speech delay, seizures and behavioural problems.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows creatine supplementation, with ornithine and dietary changes in GAMT deficiency, which can improve or prevent symptoms in the synthesis defects when started early.
How SLC6A8 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.9 kb of the gene's 8.7 kb; 1,908 of those bases code for the protein.
How a genome test reads SLC6A8
163
positions in SLC6A8 where ClinVar classes a change as pathogenic or likely pathogenic
163 of them (100%) fall in regions short reads find hard.
- Low mappability (44 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (163 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 8.7 kb of SLC6A8, introns included, not only the 3.9 kb of exons.
Variants with a page (82)
The SLC6A8 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A153Gfs*36 | c.457dup | Exon 3 | 153,691,364 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A191Qfs*10 | c.570_571del | Exon 3 | 153,691,476 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A404P | c.1210G>C | Exon 8 | 153,693,973 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A478Gfs*24 | c.1432dup | Exon 10 | 153,694,381 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.262_262+1delinsTT | Exon 1 | 153,688,836 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.262+1G>T | Intron 1 | 153,688,837 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.263-1G>C | Intron 1 | 153,690,374 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.263-2A>G | Intron 1 | 153,690,373 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.778-2A>G | Intron 4 | 153,693,039 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.912G>A | Exon 5 | 153,693,175 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
Traits linked to SLC6A8
The Human Phenotype Ontology lists these as features of the rare conditions SLC6A8 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Intellectual disability
- Reduced brain creatine level by MRS
- Delayed speech and language development
- Epilepsy
- Ataxia
- Autism spectrum disorder
- Chorea
Show 15 more traits
- Dystonia
- Involuntary writhing movements in fingers, hands, toes, and feet
- More active than typical
- Self-mutilation
- Speech apraxia
- Wide based walk
- Abnormal gait
- Aggressive behavior
- Attention deficit
- Delayed myelination
- Motor delay
- Poor hand-eye coordination
- Poor social interactions
- Repetitive movements
- Underdevelopment of part of brain called corpus callosum
Abnormality of head or neck
- Abnormally small head
- Open mouth
- Zygomatic flattening
- Expressionless face
- Big lower jaw
- Broad forehead
- Long face
- Midface retrusion
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SLC6A8 gene: solute carrier family 6 member 8. Retrieved 16 October 2026, from https://dantelabs.com/genes/slc6a8
Dante Labs. SLC6A8 gene: solute carrier family 6 member 8 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/slc6a8
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