Gene: FBXL4

Alternate names for this Gene: FBL4|FBL5|MTDPS13

Gene 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q16.1-q16.2

Description of this Gene: F-box and leucine rich repeat protein 4

Type of Gene: protein-coding

rs773850151 in FBXL4 gene and Abnormality of brain morphology PMID 25868664 2015 Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

PMID 27743463 2017 FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

rs772037717 in FBXL4 gene and Acidosis, Lactic PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs772037717 in FBXL4 gene and Cerebral atrophy PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs201889294 in FBXL4 gene and Depletion of mitochondrial DNA PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 23993193 2013 Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

PMID 27099744 2016 Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.

rs1182326570 in FBXL4 gene and Dysmorphic features PMID 10531035 1999 Identification of a family of human F-box proteins.

PMID 23993193 2013 Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

PMID 23993194 2013 Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

PMID 25868664 2015 Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

PMID 28940506 2017 Molecular and clinical spectra of FBXL4 deficiency.

PMID 27743463 2017 FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

rs1182326570 in FBXL4 gene and FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome PMID 23993194 2013 Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

PMID 27858371 2017 Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 25868664 2015 Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

PMID 23993193 2013 Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

PMID 27743463 2017 FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

PMID 27099744 2016 Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 27182309 2019 Influence of Body Composition, Oral Contraceptive Use, and Physical Activity on Bone Mineral Density in Premenopausal Women.

rs772037717 in FBXL4 gene and Feeding difficulties PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs772037717 in FBXL4 gene and Global developmental delay PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs772037717 in FBXL4 gene and Mild dysmorphic features PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs1182326570 in FBXL4 gene and Muscle hypotonia PMID 27743463 2017 FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

PMID 28940506 2017 Molecular and clinical spectra of FBXL4 deficiency.

PMID 23993194 2013 Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

PMID 25868664 2015 Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

PMID 23993193 2013 Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

PMID 10531035 1999 Identification of a family of human F-box proteins.

PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs772037717 in FBXL4 gene and Seizures PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.