Gene: FBXO32

Alternate names for this Gene: Fbx32|MAFbx

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.13

Description of this Gene: F-box protein 32

Type of Gene: protein-coding

rs62521286 in FBXO32 gene and Atrial Fibrillation PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs62521287 in FBXO32 gene and Glaucoma, Open-Angle PMID 29891935 2018 A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

rs138689397 in FBXO32 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.