FOXQ1

Chr 6

forkhead box Q1

Also known as: HFH1

NCBI Gene: 94234 ENSG00000164379 UniProt: Q9C009

FOXQ1 encodes a forkhead box transcription factor that regulates hair follicle differentiation during embryonic development. Mutations cause autosomal recessive hypotrichosis, characterized by sparse hair growth affecting the scalp and body. The gene shows moderate constraint against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

FOXQ1 is a member of the FOX gene family, which is characterized by a conserved 110-amino acid DNA-binding motif called the forkhead or winged helix domain. FOX genes are involved in embryonic development, cell cycle regulation, tissue-specific gene expression, cell signaling, and tumorigenesis (Bieller et al., 2001 [PubMed 11747606]).[supplied by OMIM, May 2009]

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

0.96

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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