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Papillary adenocarcinomas of thyroid, a few melanomas and gliomas as well as breast cancers displayed weak to moderate cytoplasmic positivity. Remaining cancer cells were negative.
GENE INFORMATION
Gene name
C12orf65 (HGNC Symbol)
Synonyms
FLJ38663, SPG55
Description
Chromosome 12 open reading frame 65 (HGNC Symbol)
Entrez gene summary
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]