FBXL4 Chromosome 6
F-box and leucine rich repeat protein 4
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What This Gene Does
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]
Gene Info
Gene Group
F-box and leucine rich repeat proteins
Locus Type
gene with protein product
Location
6q16.1-q16.2
Ensembl
ENSG00000112234
Associated Conditions (12)
Mitochondrial DNA depletion syndrome 13
Inborn genetic diseases
FBXL4-related disorder
Mitochondrial DNA depletion syndrome
Leigh syndrome
Squamous cell lung carcinoma
Neurodevelopmental delay
Developmental and epileptic encephalopathy
85
with or without midline brain defects
Mitochondrial encephalomyopathy
Global developmental delay
Key Variants
RS11537982
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
Health Risk
RS118092784
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
Health Risk
RS1345325140
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
Health Risk
RS138206466
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
Health Risk
RS1391578014
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
Health Risk
RS141165629
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
Health Risk
RS142814111
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
Health Risk
RS142853738
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 13, Inborn genetic diseases, Mitochondrial DNA depletion syndrome 13
Health Risk
RS143154211
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
Health Risk
RS1443104983
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
Health Risk
RS144468932
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
Health Risk
RS146999462
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
Health Risk
All Variants (147)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2535146567 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS398123062 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS750973870 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS751656896 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS754142863 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Inborn genetic diseases, Leigh syndrome |
| RS761902417 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS767543583 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS772037717 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS775768793 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS878853112 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS879255542 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Leigh syndrome, Mitochondrial DNA depletion syndrome 13 |
| RS1182326570 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Inborn genetic diseases, Mitochondrial DNA depletion syndrome 13 |
| RS1187832552 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS1240941970 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1394080480 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS1457616370 | Health Risk | Pathogenic | — |
| RS1554215964 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS1554215986 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS1554216735 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Squamous cell lung carcinoma, Mitochondrial DNA depletion syndrome 13 |
| RS1554218789 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS1554219474 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS1554221258 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS1554222122 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS1582425360 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS1582425406 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS201858974 | Health Risk | Pathogenic | — |
| RS201889294 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome, Inborn genetic diseases |
| RS2128400842 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS2535144987 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS372735676 | Health Risk | Pathogenic | — |
| RS747536886 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS761215749 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS765882664 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS766892502 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS886041625 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS1057519447 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS1554215959 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS1554222130 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS1562245046 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS200440128 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Inborn genetic diseases, Neurodevelopmental delay |
| RS368965675 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS398123060 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Developmental and epileptic encephalopathy, 85 |
| RS398123061 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial encephalomyopathy, Global developmental delay |
| RS758395213 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS761974928 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13 |
| RS773850151 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Leigh syndrome, Mitochondrial DNA depletion syndrome 13 |
| RS964532159 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 13, Inborn genetic diseases, Mitochondrial DNA depletion syndrome 13 |