Entrez gene ID | | 91574 |
Official gene symbol | | C12orf65 |
Full name | | chromosome 12 open reading frame 65 |
Aliases | | ,FLJ38663, |
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] |
Location | | Chromosome: 12 Locus: 12q24.31 |
Gene position | | 123717844 - 123742506 Map Viewer |
Gene orientation | | plus |
Gene size | | 24663 bp |
Gene sequence |
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OMIM ID | | 613541 |