RecName: Full=Ubiquinone biosynthesis protein COQ9, mitochondrial; Fla - Protein

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A family segregating lethal neonatal coenzyme Q(10) deficiency caused by mutations in COQ9. [J Inherit Metab Dis. 2018]
A family segregating lethal neonatal coenzyme Q(10) deficiency caused by mutations in COQ9.
Smith AC, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, Aberg E, Majewski J, Bulman DE, Horsting-Wethly K, Koning DV, et al. J Inherit Metab Dis. 2018 Jul; 41(4):719-729. Epub 2018 Mar 20.
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. [Eur J Hum Genet. 2016]
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.
Danhauser K, Herebian D, Haack TB, Rodenburg RJ, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F. Eur J Hum Genet. 2016 Mar; 24(3):450-4. Epub 2015 Jun 17.
Neonatal presentation of coenzyme Q10 deficiency. [J Pediatr. 2001]
Neonatal presentation of coenzyme Q10 deficiency.
Rahman S, Hargreaves I, Clayton P, Heales S. J Pediatr. 2001 Sep; 139(3):456-8.

RefSeq genomic sequence
See the genomic reference sequence for the COQ9 gene (NG_027696.1).
RefSeq protein
See the reference protein sequence for ubiquinone biosynthesis protein COQ9, mitochondrial precursor (NP_064708.1).

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O75208 [Domain Mapping of Disease Mut...]
O75208
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=Ubiquinone biosynthesis protein COQ9, mitochondrial; Flags: Precur...
RecName: Full=Ubiquinone biosynthesis protein COQ9, mitochondrial; Flags: Precursor
gi|74735505|sp|O75208.1|COQ9_HUMAN

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