FBH1

Chr 10

F-box DNA helicase 1

Also known as: FBXO18, Fbx18, hFBH1

NCBI Gene: 84893 ENSG00000134452 UniProt: Q8NFZ0

This protein functions as a 3'-5' DNA helicase that maintains genome stability by regulating DNA replication fork processing and homologous recombination, and also serves as a component of an E3 ubiquitin ligase complex. Mutations cause autosomal dominant early-onset epilepsy with or without developmental delay, neurodevelopmental disorder with speech impairment and dysmorphic features, or hypocalciuric hypercalcemia. The gene is highly constrained against loss-of-function variants (LOEUF 0.479), indicating that such variants are likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [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)

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P/LP submissions

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P/LP missense

0.48

LOEUF

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Mechanism

Some data sources returned errors (1)

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