Table A.

Mitochondrial DNA-Associated Leigh Syndrome Spectrum: Genes and Databases

GeneChromosome LocusProteinClinVar
MT-ATP6 Mitochondrion ATP synthase subunit a MT-ATP6
MT-CO1 Mitochondrion Cytochrome c oxidase subunit 1 MT-CO1
MT-CO2 Mitochondrion Cytochrome c oxidase subunit 2 MT-CO2
MT-CO3 Mitochondrion Cytochrome c oxidase subunit 3 MT-CO3
MT-ND1 Mitochondrion NADH-ubiquinone oxidoreductase chain 1 MT-ND1
MT-ND2 Mitochondrion NADH-ubiquinone oxidoreductase chain 2 MT-ND2
MT-ND3 Mitochondrion NADH-ubiquinone oxidoreductase chain 3 MT-ND3
MT-ND4 Mitochondrion NADH-ubiquinone oxidoreductase chain 4 MT-ND4
MT-ND5 Mitochondrion NADH-ubiquinone oxidoreductase chain 5 MT-ND5
MT-ND6 Mitochondrion NADH-ubiquinone oxidoreductase chain 6 MT-ND6
MT-TI MitochondrionNot applicable MT-TI
MT-TK MitochondrionNot applicable MT-TK
MT-TL1 MitochondrionNot applicable MT-TL1
MT-TV MitochondrionNot applicable MT-TV
MT-TW MitochondrionNot applicable MT-TW

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

From: Mitochondrial DNA-Associated Leigh Syndrome Spectrum

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