FOXO6

Chr 1

forkhead box O6

NCBI Gene: 100132074 ENSG00000204060 UniProt: A8MYZ6 OMIM: 611457

FOXO6 encodes a transcriptional activator that binds DNA and regulates gene transcription by RNA polymerase II, with predicted involvement in dendritic spine development. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures. The gene shows moderate constraint to loss-of-function variation (LOEUF 0.67), consistent with its role in neurodevelopment.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of dendritic spine development and regulation of transcription by RNA polymerase II. Predicted to be located in chromatin and cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.67

Clinical Summary— FOXO6

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.

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