MT-ND4

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Name:	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
Symbol:	MT-ND4
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	NAD4 NADH-ubiquinone oxidoreductase chain 4 ND4 complex I ND4 subunit
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
• Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
• Leigh / NARP Syndrome

Related Diseases

• Leber hereditary optic neuropathy
• Leber plus disease
• MELAS
• Mitochondrial DNA-associated Leigh syndrome
• Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
• Rare mitochondrial non-syndromic sensorineural deafness

Related Gene Panels

• LHON (3 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  MT-ND1
  MT-ND4
  MT-ND6

• Leigh syndrome (mtDNA / 37 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  MT-ND1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND3	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND4L	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND4	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND5	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND6	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CO1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CO2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CO3	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ATP8	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ATP6	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CYB	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TF	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TQ	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TW	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TL1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TH	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TS1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TS2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TP	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TK	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TT	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TL2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TV	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TE	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TI	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TM	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TN	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TA	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TC	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TG	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TR	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TY	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TD	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-RNR1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-RNR2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations