Identity
HGNC
LOCATION
6q16.1
LOCUSID
ALIAS
FBL4,FBL5,MTDPS13
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 26235
MIM: 605654
HGNC: 13601
Ensembl: ENSG00000112234
Variants:
dbSNP: 26235
ClinVar: 26235
TCGA: ENSG00000112234
COSMIC: FBXL4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000112234 | ENST00000229971 | Q9UKA2 |
| ENSG00000112234 | ENST00000369244 | Q9UKA2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37876279 | 2024 | Excessive BNIP3- and BNIP3L-dependent mitophagy underlies the pathogenesis of FBXL4-mutated mitochondrial DNA depletion syndrome. | 0 |
| 37876279 | 2024 | Excessive BNIP3- and BNIP3L-dependent mitophagy underlies the pathogenesis of FBXL4-mutated mitochondrial DNA depletion syndrome. | 0 |
| 37102372 | 2023 | FBXL4 ubiquitin ligase deficiency promotes mitophagy by elevating NIX levels. | 9 |
| 37161784 | 2023 | FBXL4 suppresses mitophagy by restricting the accumulation of NIX and BNIP3 mitophagy receptors. | 14 |
| 37102372 | 2023 | FBXL4 ubiquitin ligase deficiency promotes mitophagy by elevating NIX levels. | 9 |
| 37161784 | 2023 | FBXL4 suppresses mitophagy by restricting the accumulation of NIX and BNIP3 mitophagy receptors. | 14 |
| 32525278 | 2020 | FBXL4 deficiency increases mitochondrial removal by autophagy. | 32 |
| 32559514 | 2020 | Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13. | 8 |
| 32525278 | 2020 | FBXL4 deficiency increases mitochondrial removal by autophagy. | 32 |
| 32559514 | 2020 | Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13. | 8 |
| 31442532 | 2019 | Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion. | 12 |
| 31442532 | 2019 | Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion. | 12 |
| 27743463 | 2017 | FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. | 10 |
| 28698647 | 2017 | Identification of FBXL4 as a Metastasis Associated Gene in Prostate Cancer. | 10 |
| 28940506 | 2017 | Molecular and clinical spectra of FBXL4 deficiency. | 18 |
Citation
Dessen P
FBXL4 (F-box and leucine rich repeat protein 4)
Atlas Genet Cytogenet Oncol Haematol. 2019-04-01
Online version: http://atlasgeneticsoncology.org/gene/57816/fbxl4-(f-box-and-leucine-rich-repeat-protein-4)
