- Human pathology

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MIM.185620 9q34

Monday 14 November 2005

SURF1 is part of a cluster of unrelated housekeeping genes and is the only gene of this cluster that is known or believed to be involved in COX assembly.

The SURF1 mutations were found in COX-deficient families by using genetic linkage studies combined with candidate gene approaches. In a relatively short period of time after the discovery of mutations in SURF1, mutations were found in genes that encode three other complex-IV assembly factors.


- germline mutations in Leigh syndrome due to cytochrome C oxidase deficiency (COX deficiency) (MIM.256000)