RecName: Full=NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, m - Protein

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Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle. [Neuron. 2024]
Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle.
Sonsalla G, Malpartida AB, Riedemann T, Gusic M, Rusha E, Bulli G, Najas S, Janjic A, Hersbach BA, Smialowski P, et al. Neuron. 2024 Apr 3; 112(7):1117-1132.e9. Epub 2024 Jan 23.
Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation. [Mol Genet Metab. 2020]
Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation.
González-Quintana A, Trujillo-Tiebas MJ, Fernández-Perrone AL, Blázquez A, Lucia A, Morán M, Ugalde C, Arenas J, Ayuso C, Martín MA. Mol Genet Metab. 2020 Nov; 131(3):341-348. Epub 2020 Oct 16.
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population. [Am J Med Genet A. 2017]
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
Lamont RE, Beaulieu CL, Bernier FP, Sparkes R, Innes AM, Jackel-Cram C, Ober C, Parboosingh JS, Lemire EG. Am J Med Genet A. 2017 Mar; 173(3):596-600. Epub 2016 Sep 27.

RefSeq genomic sequence
See the genomic reference sequence for the NDUFS4 gene (NG_008200.1).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the NDUFS4 gene.

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O43181 [Domain Mapping of Disease Mut...]
O43181
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

RecName: Full=NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondri...
RecName: Full=NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial; AltName: Full=Complex I-18 kDa; Short=CI-18 kDa; AltName: Full=Complex I-AQDQ; Short=CI-AQDQ; AltName: Full=NADH-ubiquinone oxidoreductase 18 kDa subunit; Flags: Precursor
gi|3287881|sp|O43181.1|NDUS4_HUMAN

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