MTRF1
Description
The MTRF1 (mitochondrial translation release factor 1) is a protein-coding gene located on chromosome 13.
MTRF1, also known as Mitochondrial translational release factor 1, is a human gene. The protein encoded by this gene is responsible for directing the termination of translation in response to peptide chain termination codons. While initially believed to be involved in mitochondrial protein synthesis termination, MTRF1 has been proposed to recognize non-standard stop codons AGA and AGG in vertebrates. Alternatively, based on 3D modeling, it has been suggested that MTRF1 recognizes stalled ribosomes with a tRNA bound to the peptide chain, but an empty A-site.
MTRF1, a mitochondrial peptide chain release factor, recognizes the non-canonical stop codons AGG and AGA, which are found at the end of MT-CO1/COX1 and MT-ND6/ND6 open reading frames, respectively. Unlike other release factors that directly interact with codon bases, MTRF1 uses an intricate network of interactions involving residues of the release factor, ribosomal RNA, and neighboring mRNA bases to reposition the first two bases of the stop codon. This unique mechanism ensures accurate termination of translation in response to these non-canonical stop codons. {ECO:0000269|PubMed:36302763, ECO:0000269|PubMed:36596788, ECO:0000269|PubMed:37141370}
MTRF1 is also known as MRF1, MTTRF1, RF1.
Associated Diseases
- hypertriglyceridemia 2
- cholesterol-ester transfer protein deficiency
- hypoalphalipoproteinemia, primary, 1
- hyperlipidemia due to hepatic triglyceride lipase deficiency
- homozygous familial hypercholesterolemia
- hyperinsulinemic hypoglycemia, familial, 4
