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DEE68

Chr 3AR

trafficking kinesin protein 1

Also known as: DEE68, EIEE68, MILT1, OIP106

The protein enables GABA receptor binding and myosin binding activities and is involved in endosome to lysosome transport. Mutations cause developmental and epileptic encephalopathy 68, which follows autosomal recessive inheritance. This condition affects neurological development and is characterized by early-onset seizures combined with developmental delays.

OMIMResearchSummary from RefSeq, OMIM
AR1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE68?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

DEE68 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

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