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Article

Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency.

Human molecular genetics - 1 Jul 2014

Ghosh Alok, Trivedi Prachi P, Timbalia Shrishiv A, Griffin Aaron T, Rahn Jennifer J, Chan Sherine S L, Gohil Vishal M

Abstract excerpt

Mitochondrial respiratory chain biogenesis is orchestrated by hundreds of assembly factors, many of which are yet to be discovered. Using an integrative approach based on clues from evolutionary history, protein localization and human genetics, we have identified a conserved mitochondrial protein, C1orf31/COA6, and shown its requirement for respiratory complex IV biogenesis in yeast, zebrafish and human cells. A...

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Source

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Identifiers

PMID: 24549041
DOI: 10.1093/hmg/ddu069
PMCID: PMC4049311

Genes

COA6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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