mitochondrial translation release factor in rescue

Summary
Gene Symbol
  • MTRFR
Organism
Homo sapiens (human)
NCBI Gene
91574
PubChem
91574
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Coiled coil
  • Disease variant
  • Hereditary spastic paraplegia
  • Methylation
  • Mitochondrion
  • Primary mitochondrial disease
  • Protein biosynthesis
  • Proteomics identification
  • RNA-binding
  • Reference proteome
  • Transit peptide
Proteins
Displaying 1 entry
UniProt Protein Name
Q9H3J6
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
translational termination
rescue of stalled ribosome
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
peptide chain release factor
Functional Category
  • E: Amino acid transport and metabolism
  • J: Translation, ribosomal structure and biogenesis
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0110807 hereditary spastic paraplegia 55
DOID:0111487 combined oxidative phosphorylation deficiency 7

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025