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

Mitochondrial COX1 gene

The mitochondrial gene MT-CO1 It is subunit 3 of the cytochome c oxidase, belonging to respiratory complex IV. The gene is encoded by nucleotides 5904-7444. Diseases caused by mutations include Leber hereditary optic neuropathy, sideroblastic anemia, cytochrome c oxydase deficiency, colorectal cancer, and myoglobinuria. 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:

Leber hereditary optic neuropathy
MT-ATP6
MT-CO1
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND4
MT-ND4L
MT-ND5
MT-ND6

References:

1.

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
2.

Greaves LC et al. (2006) Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.

external link
3.

Namslauer I et al. (2009) A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

Brown MD et al. (1992) Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.

external link
13.

None (1993) Current issues in the chemistry of cytochrome c oxidase.

external link
14.

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

external link
15.

None (1993) Mitochondrial diseases: genotype versus phenotype.

external link
16.

Davis RE et al. (1997) Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease.

external link
17.

Gattermann N et al. (1997) Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.

external link
18.

Parfait B et al. (1997) No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.

external link
19.

Hirano M et al. (1997) Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes.

external link
20.

Wallace DC et al. (1997) Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations.

external link
21.

Guan MX et al. (1998) The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

external link
22.

Jaksch M et al. (1998) A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

external link
23.

Yuan H et al. (2005) Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.

external link
24.

None (1956) On the origin of cancer cells.

external link
25.

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
26.

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

external link
27.

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

external link
28.

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
29.

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
30.

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

external link
31.

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

external link
32.

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

external link
33.

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

external link
34.

Polyak K et al. (1998) Somatic mutations of the mitochondrial genome in human colorectal tumours.

external link
35.

Fan W et al. (2008) A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations.

external link
36.

Temperley R et al. (2010) Hungry codons promote frameshifting in human mitochondrial ribosomes.

external link
37.

Wisløff U et al. (2005) Cardiovascular risk factors emerge after artificial selection for low aerobic capacity.

external link
38.

Bruno C et al. (1999) A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

external link
39.

Pandya A et al. (1999) Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.

external link
40.

Karadimas CL et al. (2000) Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

external link
41.

Varlamov DA et al. (2002) Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.

external link
42.

Acín-Pérez R et al. (2003) An intragenic suppressor in the cytochrome c oxidase I gene of mouse mitochondrial DNA.

external link
43.

Brown MD et al. (1992) A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I.

external link
44.

Lucioli S et al. (2006) Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.

external link
45.

Orphanet article

Orphanet ID 123512 external link
46.

NCBI article

NCBI 4512 external link
47.

OMIM.ORG article

Omim 516030 external link
48.

Wikipedia article

Wikipedia EN (Cytochrome_c_oxidase_subunit_I) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 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 | Website Credits