Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.

doi:10.1001/archneur.61.12.1935

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Article

Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.

Archives of neurology - 1 Dec 2004

Tay Stacey K H, Nesti Claudia, Mancuso Michelangelo, Schon Eric A, Shanske Sara, Bonilla Eduardo, Davidson Mercy M, Dimauro Salvatore

Abstract excerpt

BACKGROUND: Cytochrome-c oxidase (COX) is the terminal enzyme of the mitochondrial electron transport chain, and COX deficiency is a common cause of mitochondrial diseases. Cytochrome-c oxidase is composed of 13 subunits, of which 3 are encoded by mitochondrial DNA and 10 by nuclear DNA. Mutations have been identified in each of the 3 mitochondrial DNA genes but in none of the nuclear DNA genes. However, COX...

Topics

Child
Cytochrome-c Oxidase Deficiency
Humans
Membrane Proteins
Mitochondrial Proteins
Muscle, Skeletal
Mutation
Polymorphism, Single-Stranded Conformational
Protein Subunits
Saccharomyces cerevisiae Proteins

Source

Open in PubMed

Identifiers

PMID: 15596615
DOI: 10.1001/archneur.61.12.1935

Genes

COX16
COX19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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