FBXO32
F-box protein 32
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. [provided by RefSeq, Jun 2011]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1324208230 | 8:124,515,665 | C/T | — | uncertain significance |
| rs778968335 | 8:124,515,701 | C/T | — | uncertain significance |
| rs4870855 | 8:124,515,854 | G/A | — | benign |
| rs73330050 | 8:124,516,813 | G/A | — | benign |
| rs143618195 | 8:124,516,883 | G/T | — | benign |
| rs369362393 | 8:124,516,924 | G/T | — | uncertain significance |
| rs1386096062 | 8:124,516,954 | G/T | — | uncertain significance |
| rs372778187 | 8:124,516,977 | C/T | — | uncertain significance |
| rs55994600 | 8:124,517,211 | C/A | — | benign |
| rs10093411 | 8:124,518,530 | A/G | — | benign |
| rs775048494 | 8:124,518,636 | C/T | — | uncertain significance |
| rs1037310401 | 8:124,518,637 | G/A | — | uncertain significance |
| rs140223880 | 8:124,518,686 | G/A | — | likely benign |
| rs34225633 | 8:124,518,695 | G/A | — | benign |
| rs201466412 | 8:124,518,703 | C/T | — | uncertain significance |
| rs758892000 | 8:124,518,776 | C/G | — | uncertain significance |
| rs3739288 | 8:124,525,377 | G/T | — | benign |
| rs3739287 | 8:124,525,483 | C/T | — | benign |
| rs3892087 | 8:124,525,546 | G/A | — | benign |
| rs2294088 | 8:124,526,607 | G/A | — | benign |
| rs2294089 | 8:124,526,763 | T/C | — | benign |
| rs138689397 | 8:124,542,931 | T/C | intron variant | — |
| rs16898538 | 8:124,543,970 | T/C | — | benign |
| rs1817244406 | 8:124,545,449 | G/C | — | uncertain significance |
| rs747063475 | 8:124,545,464 | T/A | — | uncertain significance |
| rs78332318 | 8:124,546,102 | C/T | intron variant | — |
| rs6988591 | 8:124,547,004 | T/C | — | benign |
| rs866339146 | 8:124,547,038 | C/A | — | uncertain significance |
| rs62521287 | 8:124,552,133 | C/T | intron variant | — |
| rs1229564357 | 8:124,553,140 | T/C | — | uncertain significance |
| rs547984104 | 8:124,553,164 | C/T | — | uncertain significance |
| rs4871385 | 8:124,553,222 | G/C | — | benign |
| rs114230343 | 8:124,553,485 | G/C | — | benign |
| rs114794639 | 8:124,553,585 | G/A | — | benign |
| rs28699074 | 8:124,553,654 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.