MSTO1
Function
Involved in the regulation of mitochondrial distribution and morphology (PubMed:17349998, PubMed:28544275, PubMed:28554942). Required for mitochondrial fusion and mitochondrial network formation (PubMed:28544275, PubMed:28554942).
Involvement in disease
Myopathy, mitochondrial, and ataxia
MMYAT
A neuromuscular disorder characterized by muscle weakness and atrophy, ataxia, poor growth, delayed motor development, dysdiadochokinesia, dysmetria and additional neurologic features. Some patients show skeletal and endocrine anomalies, as well as behavioral psychiatric manifestations. MMYAT transmission pattern is consistent with autosomal dominant inheritance in some families, and autosomal recessive inheritance in others.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the misato family.
Tissue Specificity
Present in all cell lines tested (at protein level). Widely expressed.
Cellular localization
- Mitochondrion outer membrane
- Cytoplasm
Alternative names
LST005, SLTP005, MSTO1, Protein misato homolog 1