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With respect to the MT-ATP6 reading frame (+3), the MT-ATP8 gene ends in the +1 reading frame with a TAG stop codon. The MT-ATP6 protein weighs 24.8 kDa and is composed of 226 amino acids . [ 8 ] [ 9 ] 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.
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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.
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 ]
English: The human genes MT-ATP8 and MT-ATP6 located in the mitochondrial DNA and coding for the ATP synthase F0 subunits 8 and 6 overlap on 46 nucleotides. The DNA sequence of this region of the human mitochondrial genome is given in black (positions 8,525 to 8,580 in the sequence accession NC_012920).
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The MT-TV gene is located on the p arm of the non-nuclear mitochondrial DNA at position 12 and it spans 69 base pairs. [2] The structure of a tRNA molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafed clover .