Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Mitochondrial COX3 gene

The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

References:

1.

Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.

external link
2.

Hanna MG et al. (1998) Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

external link
3.

Seneca S et al. (1996) A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis.

external link
4.

Keightley JA et al. (1996) A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.

external link
5.

Oostra RJ et al. (1995) Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.

external link
6.

Suzuki H et al. (1988) Cloning and sequencing of a cDNA for human mitochondrial ubiquinone-binding protein of complex III.

external link
7.

Temperley RJ et al. (2003) Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria.

external link
8.

Horváth R et al. (2002) Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.

external link
9.

Tiranti V et al. (2000) A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.

external link
10.

Rousseau DL et al. (1993) Proton translocation in cytochrome c oxidase: redox linkage through proximal ligand exchange on cytochrome a3.

external link
11.

Hosler JP et al. (1993) Insight into the active-site structure and function of cytochrome oxidase by analysis of site-directed mutants of bacterial cytochrome aa3 and cytochrome bo.

external link
12.

None (1993) The sequence of electron carriers in the reaction of cytochrome c oxidase with oxygen.

external link
13.

Johns DR et al. (1993) Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.

external link
14.

Kadenbach B et al. (1983) Separation of mammalian cytochrome c oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure.

external link
15.

Prochaska LJ et al. (1981) Inhibition of cytochrome c oxidase function by dicyclohexylcarbodiimide.

external link
16.

Wallace DC et al. (1986) Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.

external link
17.

Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.

external link
18.

Oliver N et al. (1984) Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.

external link
19.

Oliver NA et al. (1982) Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.

external link
20.

Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.

external link
21.

Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.

external link
22.

Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.

external link
23.

Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.

external link
24.

None (1990) Structure and function of cytochrome c oxidase.

external link
25.

Lomax MI et al. (1989) Tissue-specific genes for respiratory proteins.

external link
26.

Hare JF et al. (1980) Isolation, subunit composition, and site of synthesis of human cytochrome c oxidase.

external link
27.

Ching E et al. (1982) High-resolution electrophoretic fractionation and partial characterization of the mitochondrial translation products from HeLa cells.

external link
28.

Orphanet article

Orphanet ID 123520 external link
29.

NCBI article

NCBI 4514 external link
30.

OMIM.ORG article

Omim 516050 external link
31.

Wikipedia article

Wikipedia EN (Cytochrome_c_oxidase_subunit_III) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues