MSTO1 Antibodies, cDNA Clones Research Reagents

MSTO1 (Misato Mitochondrial Distribution And Morphology Regulator 1, also known as MST; MMYAT; LST005), located on 1q22, is a Protein Coding gene. MSTO1 is a soluble protein predominantly localized to the cytoplasm with some localization to the mitochondria. It belongs to the misato family. MSTO1 associates with the mitochondrial outer membrane and has a role in mitochondrial fusion and intracellular distribution. MSTO1 mutations have been shown to cause clinical manifestations suggestive of mitochondrial dysfunction, such as muscle weakness, short stature, etc.

MSTO1 Antibody (1)

    MSTO1 cDNA Clone (15)

    BC002535

    クローニングベクター cDNA 製品

    In lentiviral vector

    MSTO1 qPCR Primer (1)

    MSTO1 の背景知識

    MSTO1 (Misato Mitochondrial Distribution And Morphology Regulator 1) is a Protein Coding gene. The MSTO1 gene, located on 1q22, is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat, etc. MSTO1 belongs to the misato family. 7 alternatively spliced human isoforms have been reported. MSTO1 encodes a cytosolic mitochondrial fusion protein, misato homolog 1 or MSTO1. Human MSTO1 is involved in the regulation of mitochondrial distribution and morphology and its unregulated expression leads to a mitochondrial disorder. MSTO1 mutations have been shown to cause clinical manifestations suggestive of mitochondrial dysfunction, such as muscle weakness, short stature, motor developmental delay, and cerebellar atrophy. Both autosomal dominant and recessive modes of inheritance have been suggested.

    MSTO1 の参考文献

    • Li K, et al. (2020) Whole-exome sequencing identifies rare compound heterozygous mutations in the msto1 gene associated with cerebellar ataxia and myopathy. Eur J Med Genet 63 (1): 103623.
    • Iwama K, et al. (2018) Novel recessive mutations in msto1 cause cerebellar atrophy with pigmentary retinopathy. J Hum Genet 63 (3): 263-270.
    • Donkervoort S, et al. (2019) Msto1 mutations cause mtdna depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol 138 (6): 1013-1031.

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