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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.
Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP syndrome, is a rare disease with mitochondrial inheritance that causes a variety of signs and symptoms chiefly affecting the nervous system [1] Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with ...
Schematic karyogram showing the human genome, with 23 chromosome pairs, and the human mitochondrial genome to scale at bottom left (annotated "MT").Its genome is relatively tiny compared to the rest, and its copy number per human cell varies from 0 (erythrocytes) [1] up to 1,500,000 ().
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.
17708 Ensembl ENSG00000198804 ENSMUSG00000064351 UniProt P00395 P00397 RefSeq (mRNA) n/a n/a RefSeq (protein) n/a NP_904330 Location (UCSC) Chr M: 0.01 – 0.01 Mb Chr M: 0.01 – 0.01 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Protein family Cytochrome c oxidase subunit I Structure of the 13-subunit oxidized cytochrome c oxidase. Identifiers Symbol COX1 or COI Pfam PF00115 ...
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 MT-ND4 gene is located in human mitochondrial DNA from base pair 10,760 to 12,137. [5] [11] The MT-ND4 gene produces a 52 kDa protein composed of 459 amino acids.[12] [13] MT-ND4 is one of seven mitochondrial genes encoding subunits of the enzyme NADH dehydrogenase (ubiquinone), together with MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND5, and MT-ND6.
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.