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Involved in the regulation of mitochondrial distribution and morphology.. Additionally we are shipping Misato Homolog 1 Kits (10) and Misato Homolog 1 Proteins (5) and many more products for this protein.
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we have described two unrelated patients with biallelic MSTO1 mutations. Our report provides valuable information on the consequences of MSTO1 mutations for human phenotypes.
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia
Thus, an MSTO1 loss-of-function mutation is associated with a human disorder showing mitochondrial involvement. MSTO1 likely has a physiologically relevant role in mitochondrial morphogenesis by supporting mitochondrial fusion.
These results indicated that human Misato has a role(s) in mitochondrial distribution and morphology and that its unregulated expression leads to cell death.
Involved in the regulation of mitochondrial distribution and morphology.
protein misato homolog 1
, misato homolog 1