External Ids for C12orf65 Gene
Previous GeneCards Identifiers 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 Combined Oxidative Phosphorylation Deficiency 7 and Spastic Paraplegia 55, Autosomal Recessive. 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).