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Article

Molecular analysis of a new patient COX15 mutation provides insight into the etiology of fatal infantile cardioencephalopathy.

The Journal of biological chemistry - 1 Jun 2026

Carroll-Deaton Jayda A, Bohovych Iryna, Emetu Faith T, Dietz Jonathan V, Rivett Elise D, Stanley Elinor, Hegg Eric L, Fox Jennifer L, Khalimonchuk Oleh

Abstract excerpt

Mitochondrial disease can result from mutations in the enzymes responsible for biosynthesis of heme a and hemylation of respiratory complex IV of the electron transport chain, also known as cytochrome c oxidase (CcO). One of these enzymes, which is essential for assembly and function of CcO and thus function of the electron transport chain, is heme a synthase, COX15. A previously unknown fatal missense mutation...

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Topics

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Share to Electron Transport Complex IV
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydroxymethylbilane Synthase

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Share to Mutation, Missense

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Share to Saccharomyces cerevisiae Proteins

Source

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Identifiers

PMID: 42001949
DOI: 10.1016/j.jbc.2026.111475
PMCID: PMC13213658

Genes

COX15

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Molecular analysis of a new patient COX15 mutation provides insight into the etiology of fatal infantile cardioencephalopathy.PMID 42001949Read ↗

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