DOP1A

Chr 6

DOP1 leucine zipper like protein A

Also known as: DOP1, DOPEY1, KIAA1117, dJ202D23.2

NCBI Gene: 23033 ENSG00000083097 UniProt: Q5JWR5

The protein is involved in trafficking between the late Golgi and early endosomes and participates in endoplasmic reticulum organization. Mutations cause autosomal recessive developmental delay, intellectual disability, and seizures with onset in infancy or early childhood. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.25), indicating intolerance to functional disruption.

ResearchSummary from RefSeq, UniProt

Predicted to be involved in Golgi to endosome transport and endoplasmic reticulum organization. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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