enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform b [Homo - Protein

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Recessive MECR pathogenic variants cause an LHON-like optic neuropathy. [J Med Genet. 2023]
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C, Degiorgi A, Cascavilla ML, Tropeano CV, La Morgia C, Battista M, Ormanbekova D, Palombo F, Carbonelli M, Bandello F, et al. J Med Genet. 2023 Dec 21; 61(1):93-101. Epub 2023 Dec 21.
Alternative splicing liberates a cryptic cytoplasmic isoform of mitochondrial MECR that antagonizes influenza virus. [PLoS Biol. 2022]
Alternative splicing liberates a cryptic cytoplasmic isoform of mitochondrial MECR that antagonizes influenza virus.
Baker SF, Meistermann H, Tzouros M, Baker A, Golling S, Polster JS, Ledwith MP, Gitter A, Augustin A, Javanbakht H, et al. PLoS Biol. 2022 Dec; 20(12):e3001934. Epub 2022 Dec 21.
Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy. [Mitochondrion. 2021]
Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
Liu Z, Shimura M, Zhang L, Zhang W, Wang J, Ogawa-Tominaga M, Wang J, Wang X, Lv J, Shi W, et al. Mitochondrion. 2021 Mar; 57:222-229. Epub 2021 Jan 2.

RefSeq genomic sequence
See the genomic reference sequence for the MECR gene (NG_053058.2).
RefSeq mRNA
See reference mRNA sequence for the MECR gene (NM_001024732.4).
RefSeq protein isoforms
See 23 reference sequence protein isoforms for the MECR gene.

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GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
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reagents [ExactAntigen/Labome]
reagents
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