MSTO1 Chromosome 1
Misato mitochondrial distribution and morphology regulator 1
Upload your DNA to see your personal genotypes for variants in MSTO1.
What This Gene Does
Involved in mitochondrion distribution; mitochondrion organization; and positive regulation of mitochondrial fusion. Located in mitochondrial outer membrane. Is active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (6)
See cases
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Inborn genetic diseases
Congenital cerebellar hypoplasia
Inborn mitochondrial myopathy
Possible mitochondrial disorder - nuclear genes
Key Variants
RS1187504822
Conflicting classifications of pathogenicity
See cases, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, See cases
Health Risk
RS146175548
Conflicting classifications of pathogenicity
Health Risk
RS149058840
Conflicting classifications of pathogenicity
Health Risk
RS1674934230
Conflicting classifications of pathogenicity
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Health Risk
RS371544149
Conflicting classifications of pathogenicity
Health Risk
RS622288
Conflicting classifications of pathogenicity
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Inborn genetic diseases, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Health Risk
RS762798018
Conflicting classifications of pathogenicity
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Health Risk
RS764871960
Conflicting classifications of pathogenicity
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Inborn genetic diseases, Congenital cerebellar hypoplasia
Health Risk
RS767313156
Conflicting classifications of pathogenicity
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Health Risk
RS776826330
Conflicting classifications of pathogenicity
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Inborn mitochondrial myopathy, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Health Risk
RS1208636573
Likely pathogenic
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Health Risk
RS1235749181
Likely pathogenic
See cases, See cases
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1187504822 | Health Risk | Conflicting classifications of pathogenicity | See cases, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, See cases |
| RS146175548 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149058840 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1674934230 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| RS371544149 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS622288 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Inborn genetic diseases, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| RS762798018 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| RS764871960 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Inborn genetic diseases, Congenital cerebellar hypoplasia |
| RS767313156 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| RS776826330 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Inborn mitochondrial myopathy, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| RS1208636573 | Health Risk | Likely pathogenic | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| RS1235749181 | Health Risk | Likely pathogenic | See cases, See cases |
| RS749922789 | Health Risk | Likely pathogenic | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| RS771965165 | Health Risk | Likely pathogenic | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| RS781637955 | Health Risk | Likely pathogenic | — |
| RS955399709 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1248439783 | Health Risk | Pathogenic | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| RS1553295536 | Health Risk | Pathogenic | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| RS1673545403 | Health Risk | Pathogenic | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| RS1673617254 | Health Risk | Pathogenic | — |
| RS745944305 | Health Risk | Pathogenic | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Possible mitochondrial disorder - nuclear genes, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| RS563943670 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Inborn genetic diseases, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| RS752022363 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, See cases |
| RS753488873 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Inborn mitochondrial myopathy, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |