Gene
SLC32A1
solute carrier family 32 member 1
- HGNC 11018↗(opens in a new tab)
- Ensembl gene ENSG00000101438↗(opens in a new tab)
- NCBI Gene 140679↗(opens in a new tab)
Summary
- Cytogenetic location
- 20q11.23
- Coordinates
- Chromosome 20: 38,724,486–38,729,372 (GRCh38)
- Exons
- 2 exons across 4.9 kb
- Protein
- 525 amino acids
- Also known as
- VGAT, bA122O1.1
- Previous symbols
- VIAAT
- MANE Select transcript
- ENST00000217420.2NM_080552.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- 1 GenCC submitter rates it definitive or strong
How SLC32A1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
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 2.6 kb of the gene's 4.9 kb; 1,578 of those bases code for the protein.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARV1ARV1 fatty acid homeostasis modulatorShares 1 condition
- ARXaristaless related homeoboxShares 1 condition
- ATP1A2ATPase Na+/K+ transporting subunit alpha 2Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
Traits linked to SLC32A1
The Human Phenotype Ontology lists these as features of the rare conditions SLC32A1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed speech and language development
- Difficulty sleeping
- Epilepsy
- Generalized-onset seizure
- Global developmental delay
- Intellectual disability
- Loss of developmental milestones
- Motor delay
Show 59 more traits
- Epileptic encephalopathy
- Focal motor seizure
- Generalized myoclonic seizure
- Aggressive behavior
- Autism spectrum disorder
- Brief seizures with staring spells
- Chorea
- EEG abnormality
- EEG with burst suppression
- Febrile seizure (within the age range of 3 months to 6 years)
- Focal impaired awareness seizure
- Focal tonic seizure
- Grand mal seizures
- Hypsarrhythmia
- Increased reflexes
- Lethargy
- Myoclonic seizure
- Self-injurious behavior
- Sudden loss of muscle tone
- Ataxia
- Atypical absence seizure
- Atypical absence status epilepticus
- Bilateral tonic-clonic seizure with generalized onset
- Cerebral palsy
- Choreoathetosis
- Cognitive impairment
- Cortical dysplasia
- Degeneration of cerebellum
- Degeneration of cerebrum
- Delayed myelination
- Diffuse cerebral atrophy
- Diffuse white matter abnormalities
- Disorder of involuntary muscle movements
- Dystonia
- EEG with spike-wave complexes
- Episodic ataxia
- Fewer and broader ridges in brain
- Generalized cerebral degeneration/underdevelopment
- Generalized clonic seizure
- Generalized myoclonic-atonic seizure
- Generalized tonic seizure
- Incoordination
- Infantile spasms
- Jerking
- More active than typical
- Paroxysmal dyskinesia
- Pauses in breathing while sleeping
- Poor fine motor coordination
- Repeated seizures without recovery between them
- Seizure affecting one half of brain
- Thin corpus callosum
- Too much cerebrospinal fluid in the brain
- Tremor
- Underdevelopment of part of brain called corpus callosum
- Uni- and bilateral multifocal epileptiform discharges
- Ventriculomegaly
- Anxiety
- Obsessive-compulsive trait
- Slow movements
Abnormality of limbs
- Gap between 1st and 2nd toes
- Tapered finger
- Broad finger
- Dropped arches
- Limited knee straightening
- Short finger
- Talipes valgus
- Tibial torsion
Show 1 more trait
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.). SLC32A1 gene: solute carrier family 32 member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc32a1
Dante Labs. SLC32A1 gene: solute carrier family 32 member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc32a1
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