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Article

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

American journal of human genetics - 1 Jan 2003

Antonicka Hana, Mattman Andre, Carlson Christopher G, Glerum D Moira, Hoffbuhr Kristen C, Leary Scot C, Kennaway Nancy G, Shoubridge Eric A

Abstract excerpt

Deficiencies in the activity of cytochrome c oxidase (COX), the terminal enzyme in the respiratory chain, are a frequent cause of autosomal recessive mitochondrial disease in infants. These patients are clinically and genetically heterogeneous, and all defects so far identified in this group have been found in genes coding for accessory proteins that play important roles in the assembly of the COX holoenzyme...

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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: 12474143
DOI: 10.1086/345489
PMCID: PMC378614

Genes

COX15
SCO2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.PMID 12474143Read ↗

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A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review.Semantic proximity Read ↗

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

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