mitochondrially encoded NADH 4L dehydrogenase
Dernière mise à jour 28 Jun 2022
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La MT-ND4L gene provides instructions for making a protein called NADH dehydrogenase 4L. This protein is part of a large enzyme complex known as complex I, which is active in mitochondria. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. These cellular structures produce energy through a process called oxidative phosphorylation, which uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source.
Normal function
La MT-ND4L gene provides instructions for making a protein called NADH dehydrogenase 4L. This protein is part of a large enzyme complex known as complex I, which is active in mitochondria. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. These cellular structures produce energy through a process called oxidative phosphorylation, which uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source.
Complex I is one of several enzyme complexes necessary for oxidative phosphorylation. Within mitochondria, these complexes are embedded in a tightly folded, specialized membrane called the inner mitochondrial membrane. During oxidative phosphorylation, mitochondrial enzyme 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.
Complex I is responsible for the first step in the electron transport process, the transfer of electrons from a molecule called NADH to another molecule called ubiquinone. Electrons are then passed from ubiquinone through several other enzyme complexes to provide energy for the generation of ATP.
Conditions referring to this gene or chromosome
Other names
Complex I, subunit ND4L
mitochondrially encoded NADH 4L
mitochondrially encoded NADH dehydrogenase 4L
MTND4L
NADH dehydrogenase 4L
NADH dehydrogenase subunit 4L
NADH-ubiquinone oxidoreductase chain 4L
NADH-ubiquinone oxidoreductase, subunit ND4L
NADH4L
ND4L
NU4LM_HUMAN
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Lectures complémentaires et références
- mitochondrially encoded NADH 4L dehydrogenase; MedlinePlus, National Library of Medicine.
- Brown MD, Starikovskaya E, Derbeneva O, Hosseini S, Allen JC, Mikhailovskaya IE, Sukernik RI, Wallace DC. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet. 2002 Feb;110(2):130-8. doi: 10.1007/s00439-001-0660-8. Epub 2002 Jan 24.
- Mitchell AL, Elson JL, Howell N, Taylor RW, Turnbull DM. Sequence variation in mitochondrial complex I genes: mutation or polymorphism? J Med Genet. 2006 Feb;43(2):175-9. doi: 10.1136/jmg.2005.032474. Epub 2005 Jun 21.
- Mroczek-Tonska K, Kisiel B, Piechota J, Bartnik E. Leber hereditary optic neuropathy--a disease with a known molecular basis but a mysterious mechanism of pathology. J Appl Genet. 2003;44(4):529-38.
- Yu-Wai-Man P, Chinnery PF. Leber Hereditary Optic Neuropathy. 2000 Oct 26 [updated 2021 Mar 11]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1174/
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