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May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion (By similarity).. Zusätzlich bieten wir Ihnen C12orf65 Antikörper (6) und viele weitere Produktgruppen zu diesem Protein an.
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We demonstrate that the identical nonsense mutation in C12orf65 can result in different clinical features
our study delineates the broad spectrum of C12orf65 defects and establishes a distinct genotype-phenotype correlation. The obligatory clinical triad is optic atrophy, peripheral neuropathy, and spastic paraparesis.
The C12orf65 gene encodes a mitochondrial matrix protein that is critical for the release of newly synthesized proteins from mitochondrial ribosomes.
Truncating mutations in C12ORF65 lead to a variable phenotype with intellectual disability, spastic paraplegia, and ophthalmoplegia in 2 patients.
This work describes a mutation in the C12orf65 gene that causes recessive form of CMT6 and confirms the role of mitochondrial dysfunction in this complex axonal neuropathy.
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy.
Knockdown of C12orf65 resulted in increased reactive oxidative species production and apoptosis, leading to inhibition of cell proliferation.
C12orf65 might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation.
May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion (By similarity).
probable peptide chain release factor C12orf65, mitochondrial