靶标:
Mtrfr
产品别名:
2810006K23Rik; Mtrfr; mitochondrial translation release factor in rescue; mitochondrial translation release factor in rescue; mitochondrial translation release factor in rescue; Probable peptide chain release factor C12orf65 homolog, mitochondrial;
背景信息:
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.