NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform - Protein

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Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy. [Mov Disord Clin Pract. 2022]
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.
Magrinelli F, Cali E, Braga VL, Yis U, Tomoum H, Shamseldin H, Raiman J, Kernstock C, Rezende Filho FM, Barsottini OGP, et al. Mov Disord Clin Pract. 2022 Feb; 9(2):218-228. Epub 2022 Jan 3.
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. [Hum Mutat. 2021]
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Torraco A, Nasca A, Verrigni D, Pennisi A, Zaki MS, Olivieri G, Assouline Z, Martinelli D, Maroofian R, Rizza T, et al. Hum Mutat. 2021 Jun; 42(6):699-710. Epub 2021 Mar 25.
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. [J Med Genet. 2011]
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.
Ostergaard E, Rodenburg RJ, van den Brand M, Thomsen LL, Duno M, Batbayli M, Wibrand F, Nijtmans L. J Med Genet. 2011 Nov; 48(11):737-40. Epub 2011 May 26.

RefSeq genomic sequence
See the genomic reference sequence for the NDUFA12 gene (NG_032672.1).
RefSeq mRNA
See reference mRNA sequence for the NDUFA12 gene (NM_001258338.2).
RefSeq protein isoforms
See the other reference sequence protein isoform for the NDUFA12 gene (NP_061326.1).

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