FBXO32 Chromosome 8

F-box protein 32
1 variant 1 Health Risk

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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 contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
Gene Info
Gene Group
F-boxes other
Locus Type
gene with protein product
Location
8q24.13
Ensembl
ENSG00000156804
Associated Conditions (1)
OMIM: 606604
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2130498264 Health Risk Likely pathogenic OMIM: 606604, OMIM: 606604
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