Property Summary

NCBI Gene PubMed Count 18
PubMed Score 43.71
PubTator Score 33.21

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
Rheumatoid Arthritis -1.400 0.015
astrocytic glioma -1.500 0.003
ependymoma -1.800 0.030
glioblastoma -1.200 0.000
group 3 medulloblastoma -1.900 0.000
cystic fibrosis -1.472 0.000
atypical teratoid/rhabdoid tumor -1.600 0.000
pancreatic ductal adenocarcinoma liver m... -2.083 0.002
interstitial cystitis -1.200 0.000
adult high grade glioma -1.300 0.001
ovarian cancer 2.100 0.000

Synonym

Accession Q8WYQ3 A8K0J5
Symbols IMMD
SMAJ
FTDALS2
N27C7-4
C22orf16

Gene

Gene RIF (13)

PMID Text
26666268 Disassembly of the mitochondrial contact site and cristae organizing system complex secondary to CHCHD10 mutations leads to mitochondrial dysfunction including inhibition of apoptosis.
26362910 CHCHD10 was found to not be a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
26344877 CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.
25726362 CHCHD10 mutations account for approximately 1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs.
25428574 The results of this study support this estimation, and suggest that the real prevalence of CHCHD10-related disease in Finland is probably much higher.
25193783 findings identify a novel gene causing mitochondrial myopathy, thereby expanding the spectrum of mitochondrial myopathies caused by nuclear genes. Our findings also suggest a role for CHCHD10 in the morphologic remodeling of the mitochondria.
25155093 CHCHD10 encodes a protein located in the mitochondrial intermembrane space and is likely involved in mitochondrial genome stability and maintenance of cristae junctions.
24934289 Mitochondrial disease (CHCHD10 mutation) may be at the origins of some frontotemporal dementia and amyotrophic lateral sclerosis phenotypes.
20888800 CHCHD10 and GBAS are involved in oxidative phosphorylation; CHCHD10 plays role in complex IV activity.
20888800 Functional annotation of CHCHD10 as mitochondrial protein with function related to cytochrome-c-oxidase (complex IV) activity.
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AA Sequence

MPRGSRSAASRPASRPAAPSAHPPAHPPPSAAAPAPAPSGQPGLMAQMATTAAGVAVGSAVGHVMGSALT      1 - 70
GAFSGGSSEPSQPAVQQAPTPAAPQPLQMGPCAYEIRQFLDCSTTQSDLSLCEGFSEALKQCKYYHGLSS     71 - 140
LP                                                                        141 - 142
//

Text Mined References (17)

PMID Year Title
26666268 2016 CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.
26362910 2016 CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
26344877 2015 The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.
25726362 2015 CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.
25428574 2015 Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.
25193783 2015 Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.
25155093 2014 Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.
24934289 2014 A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
22017425 2012 High CpG island methylator phenotype is associated with lymph node metastasis and prognosis in gastric cancer.
20888800 2010 Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association.
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