Gene
SLC1A3
solute carrier family 1 member 3
- HGNC 10941↗(opens in a new tab)
- Ensembl gene ENSG00000079215↗(opens in a new tab)
- NCBI Gene 6507↗(opens in a new tab)
Summary
- Cytogenetic location
- 5p13.2
- Coordinates
- Chromosome 5: 36,606,606–36,688,334 (GRCh38)
- Exons
- 10 exons across 81.7 kb
- Protein
- 542 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- EAAT1, GLAST, EA6, GLAST1, GLAST-1
- MANE Select transcript
- ENST00000265113.9NM_004172.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Hereditary Episodic Ataxias
- Hereditary Episodic AtaxiaAutosomal dominant
A group of dominantly inherited ataxias with attacks of imbalance, including EA1 (KCNA1), EA2 (CACNA1A) and EA6 (SLC1A3).
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Episodic ataxia type 2 often responds to acetazolamide or 4-aminopyridine, and avoiding known triggers can reduce attacks.
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How SLC1A3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
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 81.7 kb; 1,629 of those bases code for the protein.
Genes linked to the same conditions
Traits linked to SLC1A3
The Human Phenotype Ontology lists these as features of the rare conditions SLC1A3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Degeneration of cerebellum
- Episodic ataxia
- Instability or lack of coordination of central trunk muscles
- Slurred speech
- Weakness of one side of body
- Ataxia
- Episodic hemiplegia
- Abnormal autonomic nervous system physiology
Show 31 more traits
- Behavioral abnormality
- Delayed speech and language development
- Dystonia
- Epilepsy
- Fear of loud sounds
- Intellectual disability
- Neurodevelopmental delay
- Tetraparesis
- Abnormal pyramidal sign
- Absent reflexes
- Aggressive behavior
- Bulbar signs
- Can't control feelings
- Chorea
- Choreoathetosis
- Difficulty articulating speech
- Focal motor seizure
- Grand mal seizures
- Headache
- Impulsivity
- Increased reflexes
- Migraine
- Paralysis on one side of body
- Paroxysmal dyskinesia
- Repeated seizures without recovery between them
- Tremor
- Worsening neurological symptoms
- Brain imaging abnormality
- EEG abnormality
- Motor delay
- Small cerebellum
Abnormality of the eye
- Extreme sensitivity of the eyes to light
- Abnormal involuntary eye movements
- Dilated pupil
- Involuntary, rapid, rhythmic eye movements
- Inward turning cross eyed
- Outward facing eye ball
- Decreased clarity of vision
- Double vision
Show 4 more traits
Abnormality of the digestive system
- Abnormality of the gastrointestinal tract
- Gastrointestinal dysmotility
- Nausea and vomiting
- Abdominal bloating
- Anorexia
- Constipation
- Diarrhea
- Oral-pharyngeal dysphagia
Show 3 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.
- 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.). SLC1A3 gene: solute carrier family 1 member 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc1a3
Dante Labs. SLC1A3 gene: solute carrier family 1 member 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc1a3
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