C12orf65 Antibody

1. We demonstrate that the identical nonsense mutation in C12orf65 can result in different clinical features PMID: 25995486
2. 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. PMID: 24424123
3. The C12orf65 gene encodes a mitochondrial matrix protein that is critical for the release of newly synthesized proteins from mitochondrial ribosomes. PMID: 24284555
4. Truncating mutations in C12ORF65 lead to a variable phenotype with intellectual disability, spastic paraplegia, and ophthalmoplegia in 2 patients. PMID: 24080142
5. 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. PMID: 24198383
6. A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy. PMID: 23188110
7. Knockdown of C12orf65 resulted in increased reactive oxidative species production and apoptosis, leading to inhibition of cell proliferation. PMID: 22821833
8. C12orf65 might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation. PMID: 20598281

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HGNC: 26784

OMIM: 613541

KEGG: hsa:91574

STRING: 9606.ENSP00000253233

UniGene: Hs.319128