FBXL4 gene

F-box and leucine rich repeat protein 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

Covered on Genetics Home Reference:

From NCBI Gene:

  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)

From UniProt:

Mitochondrial DNA depletion syndrome 13 (MTDPS13): An autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content. [MIM:615471]

Cytogenetic Location: 6q16.1-q16.3, which is the long (q) arm of chromosome 6 between positions 16.1 and 16.3

Molecular Location: base pairs 98,868,535 to 98,948,006 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q16.1-q16.3, which is the long (q) arm of chromosome 6 between positions 16.1 and 16.3
  • FBL4
  • FBL5
  • MTDPS13