NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 isoform 2 - Protein

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Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution. [Mol Genet Metab. 2020]
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Tort F, Barredo E, Parthasarathy R, Ugarteburu O, Ferrer-Cortès X, García-Villoria J, Gort L, González-Quintana A, Martín MA, Fernández-Vizarra E, et al. Mol Genet Metab. 2020 Nov; 131(3):349-357. Epub 2020 Oct 13.
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. [Clin Genet. 2020]
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, et al. Clin Genet. 2020 Aug; 98(2):155-165. Epub 2020 May 25.
Clinical and molecular findings in children with complex I deficiency. [Biochim Biophys Acta. 2004]
Clinical and molecular findings in children with complex I deficiency.
Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, Farina L, Spada M, Donati MA, et al. Biochim Biophys Acta. 2004 Dec 6; 1659(2-3):136-47.

RefSeq genomic sequence
See the genomic reference sequence for the NDUFA8 gene (NG_042279.2).
RefSeq mRNA
See reference mRNA sequence for the NDUFA8 gene (NM_001318195.2).
RefSeq protein isoforms
See the other reference sequence protein isoform for the NDUFA8 gene (NP_055037.1).

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Protein