{"symbol":"MTRFR","synonyms":[],"name":"mitochondrial translation release factor in rescue","description":"This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]","ncbiEntrezGeneId":91574,"ncbiEntrezGeneUrl":"https://ncbi.nlm.nih.gov/gene/91574","proteins":[],"hgncRootFamilies":[]}