FBXO36

Chr 2

F-box protein 36

Also known as: Fbx36

NCBI Gene: 130888 ENSG00000153832 UniProt: Q8NEA4

FBXO36 encodes a substrate-recognition component of SCF-type E3 ubiquitin ligase complexes, which target specific proteins for degradation through the ubiquitin-proteasome pathway. Biallelic mutations cause a severe neurodevelopmental disorder characterized by intellectual disability, seizures, and distinctive facial features, following an autosomal recessive inheritance pattern. The gene shows tolerance to loss-of-function variation in the general population, suggesting that complete loss of function may be required for disease manifestation.

ResearchSummary from RefSeq, UniProt

Members of the F-box protein family, such as FBXO36, 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…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.74

LOEUF

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Mechanism

Some data sources returned errors (1)