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The MT-ATP6 gene provides information for making a protein that is essential for normal mitochondrial function. The human MT-ATP6 gene, located in mitochondrial DNA, is 681 base pairs in length. [7] An unusual feature of MT-ATP6 is the 46-nucleotide gene overlap of its first codons with the end of the MT-ATP8 gene.
With respect to the reading frame (+1) of MT-ATP8, the MT-ATP6 gene starts on the +3 reading frame. The MT-ATP8 protein weighs 8 kDa and is composed of 68 amino acids . [ 7 ] [ 8 ] The protein is a subunit of the F 1 F o ATPase, also known as Complex V , which consists of 14 nuclear- and 2 mitochondrial-encoded subunits.
Start codon (blue circle) of the human mitochondrial DNA MT-ATP6 gene. For each nucleotide triplet (square brackets), the corresponding amino acid is given (one-letter code), either in the +1 reading frame for MT-ATP8 (in red) or in the +3 frame for MT-ATP6 (in blue). In this genomic region, the two genes overlap.
The most common MT-ATP6 mutation found with Leigh syndrome is a point mutation at nucleotide 8993 that changes a thymine to a guanine. This and other point mutations associated with Leigh syndrome destabilize or malform the protein complex and keep energy production down in affected cells. [11]
Stop codon (red dot) of the human mitochondrial DNA MT-ATP8 gene, and start codon (blue circle) of the MT-ATP6 gene. For each nucleotide triplet (square brackets), the corresponding amino acid is given (one-letter code), either in the +1 reading frame for MT-ATP8 (in red) or in the +3 frame for MT-ATP6 (in blue).
MT-ND1 is located in mitochondrial DNA from base pair 3,307 to 4,262. [5] The MT-ND1 gene produces a 36 kDa protein composed of 318 amino acids. [10] [11] MT-ND1 is one of seven mitochondrial genes encoding subunits of the enzyme NADH dehydrogenase (ubiquinone), together with MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, and MT-ND6.
Mutations in the MT-ATP6 gene cause neuropathy, ataxia, and retinitis pigmentosa. [5] The MT-ATP6 gene provides instructions for making a protein that is essential for normal mitochondrial function. Through a series of chemical reactions, mitochondria use oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy ...
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