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COX6B1

Monday 2 June 2008

Definition: COX6B1 codes for a nucleus-encoded subunit of cytochrome C oxidase.

Pathology

- germline mutations in cytochrome c oxidase deficiency (COX deficiency)

  • Cytochrome c oxidase deficiency (COX deficiency) is one of the most common respiratory-chain defects in humans. It has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX (cytochrome c oxidase).

References

- Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D’Adamo P, Gasparini P, Zeviani M. Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase. Am J Hum Genet. 2008 May 20. PMID: 18499082