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C12orf65 chromosome 12 open reading frame 65

Also known as: SPG55; COXPD7

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]

Associated conditions

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DescriptionTests
Combined oxidative phosphorylation deficiency 7
MedGen: C3150801OMIM: 613559GeneReviews: Not available
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Genomic context

Location:
12q24.31
Sequence:
Chromosome: 12; NC_000012.12 (123233297..123257959)
Total number of exons:
5

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