FOXS1

Chr 20

forkhead box S1

Also known as: FKHL18, FREAC-10, FREAC10

NCBI Gene: 2307 ENSG00000179772 UniProt: O43638

The protein is a forkhead transcription factor that represses transcription from multiple gene promoters and may play a role in testicular vasculature organization. Mutations cause autosomal recessive intellectual disability with distinctive facial features and variable congenital anomalies. The gene shows relatively low constraint to loss-of-function variants.

ResearchSummary from RefSeq, UniProt

The forkhead family of transcription factors belongs to the winged helix class of DNA-binding proteins. The protein encoded by this intronless gene contains a forkhead domain and is found predominantly in aorta and kidney. The function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]

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

0.86

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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