Variants
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MT-ND4L Gene

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L

ALIAS SYMBOLS

  • ND4L

  • NAD4L

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Description

The 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.

CHROMOSOME

mitochondria


LOCATION


LOCUS TYPE

gene with protein product

VARIANTS

602

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:7460

  • NCBI

    4539

  • OMIM

    516004

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