FBXO31 F-box protein 31
Gene ID: 79791, updated on 4-Jan-2025Gene type: protein coding
Also known as: FBX14; Fbx31; MRT45; FBXO14; pp2386
- See all available tests in GTR for this gene
- Go to complete Gene record for FBXO31
- Go to Variation Viewer for FBXO31 variants
Summary
This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
A mega-analysis of genome-wide association studies for major depressive disorder. GeneReviews: Not available | |
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. GeneReviews: Not available | |
Intellectual disability, autosomal recessive 45 | See labs |
Genomic context
- Location:
- 16q24.2
- Sequence:
- Chromosome: 16; NC_000016.10 (87326987..87392121, complement)
- Total number of exons:
- 11
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for FBXO31 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.