FBXO45

Chr 3

F-box protein 45

Also known as: Fbx45

NCBI Gene: 200933 ENSG00000174013 UniProt: P0C2W1

FBXO45 encodes a component of E3 ubiquitin ligase complexes that targets specific proteins for degradation and is required for normal neuromuscular synaptogenesis, axon pathfinding, and neuronal migration during brain development. Mutations cause autosomal recessive developmental and epileptic encephalopathy with severe intellectual disability and early-onset seizures. This neurodevelopmental disorder primarily affects the central nervous system with onset in infancy or early childhood.

ResearchSummary from RefSeq, UniProt

Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011]

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

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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