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Article

Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module.

The Journal of biological chemistry - 12 May 2017

Bourens Myriam, Barrientos Antoni

Abstract excerpt

Defects in mitochondrial cytochrome c oxidase or respiratory chain complex IV (CIV) assembly are a frequent cause of human mitochondrial disorders. Specifically, mutations in four conserved assembly factors impinging the biogenesis of the mitochondrion-encoded catalytic core subunit 2 (COX2) result in myopathies. These factors afford stability of newly synthesized COX2 (the dystonia-ataxia syndrome protein...

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Source

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Identifiers

PMID: 28330871
DOI: 10.1074/jbc.M117.778514
PMCID: PMC5427259

Genes

COX18
COX20
COA6
SCO1
SCO2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module.PMID 28330871Read ↗

Biallelic variants in<i>COX18</i>cause a mitochondrial disorder primarily manifesting as peripheral neuropathySemantic proximity Read ↗

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.Semantic proximity Read ↗

A CMC1-knockout reveals translation-independent control of human mitochondrial complex IV biogenesis.Semantic proximity Read ↗

COA5 has an essential role in the early stage of mitochondrial complex IV assemblySemantic proximity Read ↗

COA8 is a COX10-binding protein involved in the early biogenesis of cytochrome c oxidaseSemantic proximity Read ↗

COX6B1 secures a redox-sensitive step in early cytochrome <i>c</i> oxidase assemblySemantic proximity Read ↗

Multiple roles of the Cox20 chaperone in assembly of Saccharomyces cerevisiae cytochrome c oxidase.Semantic proximity Read ↗

COA6 Facilitates Cytochrome c Oxidase Biogenesis as Thiol-reductase for Copper Metallochaperones in Mitochondria.Semantic proximity Read ↗

Cox17 is functional when tethered to the mitochondrial inner membrane.Semantic proximity Read ↗

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.Semantic proximity Read ↗

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.Semantic proximity Read ↗

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

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