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Article

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.

Journal of medical genetics - 1 Dec 2016

Martinez Lyons Anabel, Ardissone Anna, Reyes Aurelio, Robinson Alan J, Moroni Isabella, Ghezzi Daniele, Fernandez-Vizarra Erika, Zeviani Massimo

Abstract excerpt

BACKGROUND: Assembly of cytochrome c oxidase (COX, complex IV, cIV), the terminal component of the mitochondrial respiratory chain, is assisted by several factors, most of which are conserved from yeast to humans. However, some of them, including COA7, are found in humans but not in yeast. COA7 is a 231aa-long mitochondrial protein present in animals, containing five Sel1-like tetratricopeptide repeat sequences,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27683825
DOI: 10.1136/jmedgenet-2016-104194
PMCID: PMC5264227

Genes

COA7

Variants

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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