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Gene

FBXL4

F-box and leucine rich repeat protein 4

Summary

Cytogenetic location
6q16.1-q16.2
Coordinates
Chromosome 6: 98,868,535–98,947,946 (GRCh38)
Exons
10 exons across 79.4 kb
Protein
621 amino acids
Also known as
FBL4, FBL5
MANE Select transcript
ENST00000369244.7NM_001278716.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Primary Mitochondrial Disease

    • Mitochondrial DNA Depletion Syndrome

      Caused by variants in nuclear genes such as POLG, TWNK, TK2, DGUOK, MPV17, RRM2B and SUCLA2, which reduce the amount of mitochondrial DNA and can cause muscle, liver or brain disease.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing is directly actionable: valproate must be avoided in POLG disease because of the risk of fatal liver failure, and TK2 deficiency has a nucleoside therapy.

Broader groupings

  • Leigh Syndrome

    • One of 69 genes linked to it

      A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong

How FBXL4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where FBXL4 sits. FBXL4 and 4 genes near it on chromosome 6, from 98,408,241 to 99,408,240.Chromosome 66q16.1-q16.2p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2798.6 Mb98.8 Mb99 Mb99.2 Mb99.4 MbPOU3F2: 98,834,574–98,839,458, forward strandPOU3F2FBXL4: 98,868,535–98,947,946, reverse strandFBXL4FAXC: 99,271,168–99,350,062, reverse strandFAXCCOQ3: 99,369,401–99,394,211, reverse strandCOQ3PNISR: 99,397,629–99,425,963, reverse strandPNISRDiagram of FBXL4: 10 exons on the reverse strand of chromosome 6Exon 10: 6 known disease-causing sitesExon 9: 19 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 5: 10 known disease-causing sitesExon 4: 17 known disease-causing sitesExon 10: 98,868,535–98,874,441, 5,907 basesExon 9: 98,875,415–98,875,727, 313 basesExon 8: 98,880,553–98,880,624, 72 basesExon 7: 98,899,268–98,899,481, 214 basesExon 6: 98,905,426–98,905,670, 245 basesExon 5: 98,917,374–98,917,719, 346 basesExon 4: 98,926,477–98,927,060, 584 basesExon 3: 98,927,705–98,927,822, 118 basesExon 2: 98,934,762–98,934,879, 118 basesExon 1: 98,947,806–98,947,946, 141 bases10864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 8.1 kb of the gene's 79.4 kb; 1,866 of those bases code for the protein.

How a genome test reads FBXL4

72

positions in FBXL4 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 79.4 kb of FBXL4, introns included, not only the 8.1 kb of exons.

Genes linked to the same conditions

Traits linked to FBXL4

The Human Phenotype Ontology lists these as features of the rare conditions FBXL4 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). FBXL4 gene: F-box and leucine rich repeat protein 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/fbxl4

Vancouver

Dante Labs. FBXL4 gene: F-box and leucine rich repeat protein 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fbxl4

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