DEE17

Chr 16AD

G protein subunit alpha o1

Also known as: DEE17, EIEE17, G-ALPHA-o, GNAO, HG1G, NEDIM

The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 17MIM #615473
AD
0
ClinVar variants
0
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryDEE17
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE17?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DEE17 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

Developmental and epileptic encephalopathy 17

MIM #615473

Molecular basis of disorder known

Autosomal dominant
📖
GeneReview available — DEE17
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
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Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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