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DEE74

Chr 5AD

gamma-aminobutyric acid type A receptor subunit gamma2

Also known as: CAE2, DEE74, ECA2, EIEE74, FEB8, GEFSP3

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 74MIM #618396
AD

Clinical highlights

Gene–disease validity
Not independently assessedOMIM lists Developmental and epileptic encephalopathy 74; no ClinGen or GenCC tier
0
Active trials
0
Pubs (1 yr)
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P/LP submissions
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P/LP missense
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LOEUF
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Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DEE74?content-type=application/json

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

DEE74 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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