EAF1

Chr 3

ELL associated factor 1

NCBI Gene: 85403 ENSG00000144597 UniProt: Q96JC9

EAF1 encodes a transcriptional transactivator that enhances the elongation activities of ELL and ELL2 transcription factors, functioning as part of the transcription elongation factor complex. Mutations cause autosomal recessive intellectual disability with speech delay and behavioral abnormalities, typically manifesting in early childhood. The gene shows moderate tolerance to loss-of-function variants based on population genetics data.

ResearchSummary from RefSeq, UniProt

Enables transcription elongation factor activity. Involved in regulation of transcription elongation by RNA polymerase II. Located in nuclear body. Part of transcription elongation factor complex. [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

0.77

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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