MSTO1

Chr 1

misato mitochondrial distribution and morphology regulator 1

Also known as: LST005, MMYAT, MST

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMyopathy, mitochondrial, and ataxia

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
1.08
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.08LOEUF
pLI 0.000
Z-score 1.27
OE 0.72 (0.491.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.02Z-score
OE missense 1.00 (0.911.11)
262 obs / 261.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.72 (0.491.08)
00.351.4
Missense OE?1.00 (0.911.11)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 17 / 23.7Missense obs/exp: 262 / 261.0Syn Z: -0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MSTO1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →