NADH Dehydrogenase 5 (ND5)

MT-ND5; MTND5; NAD5; NADH-Ubiquinone Oxidoreductase Chain 5; Mitochondrially Encoded NADH Dehydrogenase 5

SPN	H162
HGNC	7461
MGI	102496
PubMed	23628297
RGD	620560
UniProt	P03915
Wiki	MT-ND5

The MT-ND5 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. Mutations in the MT-ND5 gene are responsible for a small percentage of all cases of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. These mutations alter single DNA building blocks (nucleotides) in the gene. A particular mutation has been identified in at least five people with the characteristic features of MELAS; this mutation replaces the nucleotide guanine with the nucleotide adenine at gene position 13513. Most of the MT-ND5 mutations that cause MELAS have been shown to reduce the activity of complex I, which disrupts energy production within mitochondria.

Reference

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