FBXL4 F-box and leucine rich repeat protein 4
Gene ID: 26235, updated on 29-Oct-2024Gene type: protein coding
Also known as: FBL4; FBL5; MTDPS13
- See all available tests in GTR for this gene
- Go to complete Gene record for FBXL4
- Go to Variation Viewer for FBXL4 variants
Summary
This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Mitochondrial DNA depletion syndrome 13 | See labs |
Genomic context
- Location:
- 6q16.1-q16.2
- Sequence:
- Chromosome: 6; NC_000006.12 (98868535..98947946, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FBXL4 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
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