Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55154
MIM: 617619
HGNC: 29678
Ensembl: ENSG00000125459
Variants:
dbSNP: 55154
ClinVar: 55154
TCGA: ENSG00000125459
COSMIC: MSTO1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37431816 | 2023 | Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy. | 3 |
| 37431816 | 2023 | Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy. | 3 |
| 33222031 | 2021 | Evidence of motor axon or motor neuron damage in a Chinese patient with compound heterozygous MSTO1 variants. | 3 |
| 33222031 | 2021 | Evidence of motor axon or motor neuron damage in a Chinese patient with compound heterozygous MSTO1 variants. | 3 |
| 30684668 | 2020 | Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy. | 6 |
| 30684668 | 2020 | Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy. | 6 |
| 31463572 | 2019 | MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. | 15 |
| 31463572 | 2019 | MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. | 15 |
| 29339779 | 2018 | Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy. | 8 |
| 29339779 | 2018 | Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy. | 8 |
| 28544275 | 2017 | Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. | 25 |
| 28554942 | 2017 | MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. | 34 |
| 28544275 | 2017 | Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. | 25 |
| 28554942 | 2017 | MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. | 34 |
| 17349998 | 2007 | Human Misato regulates mitochondrial distribution and morphology. | 19 |
Citation
Dessen P
MSTO1 (misato mitochondrial distribution and morphology regulator 1)
Atlas Genet Cytogenet Oncol Haematol. 2018-07-01
Online version: http://atlasgeneticsoncology.org/gene/57443/msto1-(misato-mitochondrial-distribution-and-morphology-regulator-1)
