FBXO15

Chr 18

F-box protein 15

Also known as: FBX15

NCBI Gene: 201456 ENSG00000141665 UniProt: Q8NCQ5

The protein functions as a substrate-recognition component of SCF ubiquitin ligase complexes, which target specific proteins for degradation. The gene is highly constrained against loss-of-function variants (LOEUF 0.42), but no specific human diseases have been definitively associated with FBXO15 mutations in the medical literature to date. Further research is needed to establish any clinical phenotypes and inheritance patterns associated with this gene.

ResearchSummary from RefSeq, UniProt

Members of the F-box protein family, such as FBXO15, 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 (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 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

0.42

LOEUF

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Mechanism

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