Aliases for C12orf65 Gene
External Ids for C12orf65 Gene
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]
GeneCards Summary for C12orf65 Gene
C12orf65 (Chromosome 12 Open Reading Frame 65) is a Protein Coding gene. Diseases associated with C12orf65 include spastic paraplegia 55, autosomal recessive and combined oxidative phosphorylation deficiency 7. GO annotations related to this gene include translation release factor activity.
UniProtKB/Swiss-Prot for C12orf65 Gene
May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion. May help rescuing stalled mitoribosomes during translation (By similarity).