MSTO1 — misato mitochondrial distribution and morphology regulator 1

0 sources retrieved · Most recent: April 2026 · Index updated 27 days ago

54PubMed Papers

#8,347 · top 43% of 19K genes

21Diseases

top 19%

0Drugs

18Pathogenic Variants

top 42%

OMIM Disease GeneExperimental GO EvidenceSwiss-Prot Reviewed

protein bindingmitochondrion organizationpositive regulation of mitochondrial fusionmitochondrion distributionmitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeMitochondrial myopathymitochondrial myopathy with reversible cytochrome C oxidase deficiencygenetic disorder

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

misato mitochondrial distribution and morphology regulator 1

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeOpen Targets

0.82Strong

Mitochondrial myopathyOpen Targets

0.77Strong

mitochondrial myopathy with reversible cytochrome C oxidase deficiencyOpen Targets

0.56Moderate

genetic disorderOpen Targets

0.47Moderate

mitochondrial diseaseOpen Targets

0.37Weak

inborn mitochondrial myopathyOpen Targets

0.33Weak

Lewy body dementiaOpen Targets

0.28Weak

myopathyOpen Targets

0.27Weak

atrial fibrillationOpen Targets

0.26Weak

kidney failureOpen Targets

0.21Weak

isolated cerebellar hypoplasia/agenesisOpen Targets

0.15Weak

neuromuscular diseaseOpen Targets

0.12Weak

polycystic kidney disease 5Open Targets

0.04Suggestive

cancerOpen Targets

0.03Suggestive

familial apolipoprotein C-II deficiencyOpen Targets

0.03Suggestive

Hyperlipoproteinemia type 1Open Targets

0.03Suggestive

hepatorenocardiac degenerative fibrosisOpen Targets

0.03Suggestive

proteasome-associated autoinflammatory syndrome 5Open Targets

0.03Suggestive

Abnormality of metabolism/homeostasisOpen Targets

0.03Suggestive

functional neutrophil defectOpen Targets

0.03Suggestive

Myopathy, mitochondrial, and ataxiaUniProt

Pathogenic Variants18

NM_018116.4(MSTO1):c.836G>A (p.Arg279His)Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|not provided|Inborn genetic diseases

★★☆☆2026→ Residue 279

NM_018116.4(MSTO1):c.706G>C (p.Asp236His)Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|not provided|Inborn mitochondrial myopathy

★★☆☆2025→ Residue 236

NM_018116.4(MSTO1):c.1099-1G>APathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|not provided|Possible mitochondrial disorder - nuclear genes

★★☆☆2025

NM_018116.4(MSTO1):c.887_888del (p.Leu296fs)Pathogenic

Inborn genetic diseases|Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|See cases|not provided

★★☆☆2025→ Residue 296

NM_018116.4(MSTO1):c.1033C>T (p.Arg345Cys)Likely pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|not provided

★★☆☆2024→ Residue 345

NM_018116.4(MSTO1):c.1259del (p.Gly420fs)Pathogenic

not provided|Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

★★☆☆2023→ Residue 420

NM_018116.4(MSTO1):c.100C>T (p.Arg34Ter)Pathogenic

not provided

★☆☆☆2026→ Residue 34

GRCh38/hg38 1q22(chr1:155610587-155746587)x1Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

★☆☆☆2024

NM_018116.4(MSTO1):c.1350G>C (p.Leu450Phe)Likely pathogenic

Myopathy

★☆☆☆2024→ Residue 450

NM_018116.4(MSTO1):c.595del (p.Glu199fs)Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

★☆☆☆2024→ Residue 199

NM_018116.4(MSTO1):c.1190G>A (p.Trp397Ter)Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

★☆☆☆2024→ Residue 397

NM_018116.4(MSTO1):c.366+1G>CLikely pathogenic

not provided

★☆☆☆2022

NM_018116.4(MSTO1):c.966+1G>ALikely pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|not provided

★☆☆☆2021

NM_018116.4(MSTO1):c.1A>C (p.Met1Leu)Likely pathogenic

Inborn genetic diseases

★☆☆☆2021→ Residue 1

NM_018116.4(MSTO1):c.676C>T (p.Gln226Ter)Likely pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

★☆☆☆2017→ Residue 226

NM_018116.4(MSTO1):c.65C>A (p.Ala22Glu)Likely pathogenic

See cases

☆☆☆☆2022→ Residue 22

NM_018116.4(MSTO1):c.79C>T (p.Gln27Ter)Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

☆☆☆☆2020→ Residue 27

NM_018116.4(MSTO1):c.1128C>A (p.Phe376Leu)Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

☆☆☆☆2017→ Residue 376

Tissue Expression6 tissues

Ovary

100%

Liver

78%

Lung

51%

Bone Marrow

27%

Brain

24%

Heart

17%

Loading gene record…

0 sources retrieved · Most recent: April 2026 · Index updated 27 days ago

54PubMed Papers

#8,347 · top 43% of 19K genes

21Diseases

top 19%

0Drugs

18Pathogenic Variants

top 42%

OMIM Disease GeneExperimental GO EvidenceSwiss-Prot Reviewed

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

misato mitochondrial distribution and morphology regulator 1

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeOpen Targets

0.82Strong

Mitochondrial myopathyOpen Targets

0.77Strong

mitochondrial myopathy with reversible cytochrome C oxidase deficiencyOpen Targets

0.56Moderate

genetic disorderOpen Targets

0.47Moderate

mitochondrial diseaseOpen Targets

0.37Weak

inborn mitochondrial myopathyOpen Targets

0.33Weak

Lewy body dementiaOpen Targets

0.28Weak

myopathyOpen Targets

0.27Weak

atrial fibrillationOpen Targets

0.26Weak

kidney failureOpen Targets

0.21Weak

isolated cerebellar hypoplasia/agenesisOpen Targets

0.15Weak

neuromuscular diseaseOpen Targets

0.12Weak

polycystic kidney disease 5Open Targets

0.04Suggestive

cancerOpen Targets

0.03Suggestive

familial apolipoprotein C-II deficiencyOpen Targets

0.03Suggestive

Hyperlipoproteinemia type 1Open Targets

0.03Suggestive

hepatorenocardiac degenerative fibrosisOpen Targets

0.03Suggestive

proteasome-associated autoinflammatory syndrome 5Open Targets

0.03Suggestive

Abnormality of metabolism/homeostasisOpen Targets

0.03Suggestive

functional neutrophil defectOpen Targets

0.03Suggestive

Myopathy, mitochondrial, and ataxiaUniProt

Pathogenic Variants18

NM_018116.4(MSTO1):c.836G>A (p.Arg279His)Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|not provided|Inborn genetic diseases

★★☆☆2026→ Residue 279

NM_018116.4(MSTO1):c.706G>C (p.Asp236His)Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|not provided|Inborn mitochondrial myopathy

★★☆☆2025→ Residue 236

NM_018116.4(MSTO1):c.1099-1G>APathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|not provided|Possible mitochondrial disorder - nuclear genes

★★☆☆2025

NM_018116.4(MSTO1):c.887_888del (p.Leu296fs)Pathogenic

Inborn genetic diseases|Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|See cases|not provided

★★☆☆2025→ Residue 296

NM_018116.4(MSTO1):c.1033C>T (p.Arg345Cys)Likely pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|not provided

★★☆☆2024→ Residue 345

NM_018116.4(MSTO1):c.1259del (p.Gly420fs)Pathogenic

not provided|Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

★★☆☆2023→ Residue 420

NM_018116.4(MSTO1):c.100C>T (p.Arg34Ter)Pathogenic

not provided

★☆☆☆2026→ Residue 34

GRCh38/hg38 1q22(chr1:155610587-155746587)x1Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

★☆☆☆2024

NM_018116.4(MSTO1):c.1350G>C (p.Leu450Phe)Likely pathogenic

Myopathy

★☆☆☆2024→ Residue 450

NM_018116.4(MSTO1):c.595del (p.Glu199fs)Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

★☆☆☆2024→ Residue 199

NM_018116.4(MSTO1):c.1190G>A (p.Trp397Ter)Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

★☆☆☆2024→ Residue 397

NM_018116.4(MSTO1):c.366+1G>CLikely pathogenic

not provided

★☆☆☆2022

NM_018116.4(MSTO1):c.966+1G>ALikely pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|not provided

★☆☆☆2021

NM_018116.4(MSTO1):c.1A>C (p.Met1Leu)Likely pathogenic

Inborn genetic diseases

★☆☆☆2021→ Residue 1

NM_018116.4(MSTO1):c.676C>T (p.Gln226Ter)Likely pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

★☆☆☆2017→ Residue 226

NM_018116.4(MSTO1):c.65C>A (p.Ala22Glu)Likely pathogenic

See cases

☆☆☆☆2022→ Residue 22

NM_018116.4(MSTO1):c.79C>T (p.Gln27Ter)Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

☆☆☆☆2020→ Residue 27

NM_018116.4(MSTO1):c.1128C>A (p.Phe376Leu)Pathogenic

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

☆☆☆☆2017→ Residue 376

Tissue Expression6 tissues

Ovary

100%

Liver

78%

Lung

51%

Bone Marrow

27%

Brain

24%

Heart

17%