FBXO6

Chr 1

F-box protein 6

Also known as: FBG2, FBS2, FBX6, Fbx6b

NCBI Gene: 26270 ENSG00000116663 UniProt: Q9NRD1

This gene encodes an F-box protein that serves as a substrate-recognition component of SCF-type E3 ubiquitin ligase complexes, targeting misfolded glycoproteins in the endoplasmic reticulum for degradation and regulating DNA damage response by promoting degradation of activated CHEK1. Biallelic mutations cause autosomal recessive developmental delay with seizures and microcephaly. The gene shows tolerance to loss-of-function variants (pLI 0.015), suggesting recessive inheritance requires complete loss of function from both alleles.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 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 Fbxs class, and its C-terminal region is highly similar to that of rat NFB42 (neural F Box 42 kDa) which may be involved in the control of the cell cycle. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.84

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)