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Mitochondrial respiratory chain complex Genes
Genes in the mitochondrial respiratory chain complex gene group provide instructions for proteins involved in oxidative phosphorylation, also called the respiratory chain. Oxidative phosphorylation is an important cellular process that uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source. Five protein complexes, made up of several proteins each, are involved in this process.
The complexes are named complex I,complex II, complex III, complex IV, and complex V.Oxidative phosphorylation occurs in mitochondria, which are specialized, energyproducing structures inside cells. Within mitochondria, the five protein complexes are embedded in a tightly folded membrane called the inner mitochondrial
membrane. During oxidative phosphorylation, the protein complexes carry out chemical reactions that drive the production of ATP. Specifically, they create an unequal electrical charge on either side of the inner mitochondrial membrane through a step-by-step transfer of negatively charged particles called electrons.
This difference in electrical charge provides the energy for ATP production. Most DNA is contained in a cell's nucleus and is called nuclear DNA. Mitochondria also contain a small amount of DNA, known as mitochondrial DNA.
The mitochondrial respiratory chain complex gene group includes genes found in nuclear DNA as well as genes found in mitochondrial DNA. Mutations in either nuclear or mitochondrial genes in the mitochondrial respiratory chain complex gene group can cause disease.
Examples of genes in this gene group: MT-ATP6, MT-CYB, MT-ND1, MT-ND4,
MT-ND4L, MT-ND5, MT-ND6, SDHA, SDHB, SDHC, SDHD
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene groups (https://www.genenames.org/data/genegroup/#!/group/639) and their member genes.
References
Hanna MG, Nelson IP. Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases. Cell Mol Life Sci. 1999 May;55(5):691-706. Review. PubMed: 10379358 (https://www.ncbi.nlm.nih.gov/pubmed/10379358).
Hatefi Y. The mitochondrial electron transport and oxidative phosphorylation system. Annu Rev Biochem. 1985;54:1015-69. Review. No abstract available. PubMed: 2862839 (https://www.ncbi.nlm.nih.gov/pubmed/2862839).
Saraste M. Oxidative phosphorylation at the fin de siècle. Science. 1999 Mar 5;283(5407):1488-93. Review. PubMed: 10066163 (https:// www.ncbi.nlm.nih.gov/pubmed/10066163).
Shoubridge EA. Nuclear genetic defects of oxidative phosphorylation. Hum Mol Genet. 2001 Oct 1;10(20):2277-84. Review. PubMed: 11673411 (https:// www.ncbi.nlm.nih.gov/pubmed/11673411).
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