Property Summary

NCBI Gene PubMed Count 17
PubMed Score 9.89
PubTator Score 12.65

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
tuberculosis and treatment for 6 months 1.200 0.001
group 3 medulloblastoma 1.200 0.002

Gene RIF (8)

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

AA Sequence

MSTVGLFHFPTPLTRICPAPWGLRLWEKLTLLSPGIAVTPVQMAGKKDYPALLSLDENELEEQFVKGHGP      1 - 70
GGQATNKTSNCVVLKHIPSGIVVKCHQTRSVDQNRKLARKILQEKVDVFYNGENSPVHKEKREAAKKKQE     71 - 140
RKKRAKETLEKKKLLKELWESSKKVH                                                141 - 166
//

Text Mined References (17)

PMID Year Title
25995486 2016 Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.
25201988 2014 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24424123 2014 Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
24284555 2014 Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
24198383 2014 Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
24080142 2013 Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.
23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
23188110 2012 A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
22821833 2012 Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65.
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