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

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Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder. [JIMD Rep. 2020]
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder.
Alagia M, Cappuccio G, Torella A, D'Amico A, Mazio F, Romano A, Fecarotta S, Casari G, Nigro V, TUDP, et al. JIMD Rep. 2020 Mar; 52(1):11-16. Epub 2020 Feb 6.
NDUFA2 complex I mutation leads to Leigh disease. [Am J Hum Genet. 2008]
NDUFA2 complex I mutation leads to Leigh disease.
Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, et al. Am J Hum Genet. 2008 Jun; 82(6):1306-15.
Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy. [Clin Genet. 2018]
Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.
Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, et al. Clin Genet. 2018 Feb; 93(2):396-400. Epub 2017 Dec 21.

RefSeq mRNA
See reference mRNA sequence for the NDUFA2 gene (NM_001185012.2).
RefSeq protein isoforms
See the other reference sequence protein isoform for the NDUFA2 gene (NP_002479.1).

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GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
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Protein