FBXO10

Chr 9

F-box protein 10

Also known as: FBX10, PRMT11

NCBI Gene: 26267 ENSG00000147912 UniProt: Q9UK96 OMIM: 609092

FBXO10 encodes a substrate-recognition component of SCF E3 ubiquitin ligase complexes that mediates the ubiquitination and degradation of BCL2, RAGE, and HGAL proteins, thereby regulating apoptosis and B-cell receptor signaling. Mutations cause autosomal recessive intellectual disability with variable features including microcephaly, seizures, and developmental delays. The gene is highly constrained against loss-of-function variants (LOEUF 0.648), suggesting intolerance to protein disruption.

OMIM ResearchSummary from RefSeq, UniProt

Members of the F-box protein family, such as FBXO10, 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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.65

LOEUF

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Mechanism