FBXO22 Chromosome 15
F-box protein 22
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What This Gene Does
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, as a transcriptional target of the tumor protein p53, is thought to be involved in degradation of specific proteins in response to p53 induction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
F-boxes other
Locus Type
gene with protein product
Location
15q24.2
Ensembl
ENSG00000167196
Associated Conditions (2)
Neurodevelopmental disorder
Tayoun-Maawali syndrome
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2141698833 | Health Risk | Pathogenic | Neurodevelopmental disorder, Tayoun-Maawali syndrome, Neurodevelopmental disorder |