EA6

Chr 5AD

solute carrier family 1 member 3

Also known as: EA6, EAAT1, GLAST, GLAST1

NCBI Gene: 6507

This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]

Primary Disease Associations & Inheritance

Episodic ataxia, type 6MIM #612656
AD
2
Active trials
0
Pathogenic / LP
0
ClinVar variants
4
Pubs (1 yr)
—
Missense Z
—
LOEUF
Clinical Summary— EA6
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/EA6?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

EA6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
The episodic ataxias.
Graves TD et al.·Handb Clin Neurol
2024Review
Episodic ataxias.
Jen JC et al.·Handb Clin Neurol
2018Review
Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy.
Amadori E et al.·Eur J Med Genet
2022Review
Functional consequences of SLC1A3 mutations associated with episodic ataxia 6.
Chivukula AS et al.·Hum Mutat
2020Functional
Late-onset episodic ataxia associated with SLC1A3 mutation.
Choi KD et al.·J Hum Genet
2017
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Characterization and genome sequence of Microbacterium foliorum phage Morrigan, of cluster EA6 with siphovirus morphology.
Guerrero JA et al.·Microbiol Resour Announc
2023Open Access
Intensification of antitumor-immunity by protein-bound polysaccharide, EA6, derived from Flammulina velutipes (Curt. ex Fr.) Sing. combined with murine leukemia L1210 vaccine in animal experiments.
Otagiri K et al.·J Pharmacobiodyn
1983
Augmentation of host's immunity by combined cryodestruction of sarcoma 180 and administration of protein-bound polysaccharide, EA6, isolated from Flammulina velutipes (Curt. ex Fr.) Sing. in ICR mice.
Ohkuma T et al.·J Pharmacobiodyn
1983
Augmentation of antitumor activity by combined cryo-destruction of sarcoma 180 and protein-bound polysaccharide, EA6, isolated from Flammulina velutipes (Curt. ex Fr.) Sing. in ICR mice.
Ohkuma T et al.·J Pharmacobiodyn
1982
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients