protein misato homolog 1 isoform 13 [Homo sapiens]

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MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. [EMBO Mol Med. 2023]
MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans.
Gal A, Balicza P, Weaver D, Naghdi S, Joseph SK, Várnai P, Gyuris T, Horváth A, Nagy L, Seifert EL, et al. EMBO Mol Med. 2023 Aug 7; 15(8):e17911. Epub 2023 Jul 11.
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy. [EMBO Mol Med. 2023]
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
Gerber S, Lessard L, Rouzier C, Ait-El-Mkadem Saadi S, Ameli R, Thobois S, Abouaf L, Bouhour F, Kaplan J, Putoux A, et al. EMBO Mol Med. 2023 Aug 7; 15(8):e16090. Epub 2023 Jul 11.
Evidence of motor axon or motor neuron damage in a Chinese patient with compound heterozygous MSTO1 variants. [Acta Neurol Belg. 2021]
Evidence of motor axon or motor neuron damage in a Chinese patient with compound heterozygous MSTO1 variants.
Jiao Y, Kuang S, Yang S, Han X. Acta Neurol Belg. 2021 Jun; 121(3):795-797. Epub 2020 Nov 22.

RefSeq mRNA
See reference mRNA sequence for the MSTO1 gene (NM_001350786.1).
RefSeq protein isoforms
See 42 reference sequence protein isoforms for the MSTO1 gene.

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Protein