Gene: CHCHD10

Alternate names for this Gene: C22orf16|FTDALS2|IMMD|MIX17A|N27C7-4|SMAJ

Gene Summary: This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.23

Description of this Gene: coiled-coil-helix-coiled-coil-helix domain containing 10

Type of Gene: protein-coding

Gene: LOC107985577

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs587777574 in CHCHD10;LOC107985577 gene and FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 PMID 25155093 2014 Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.

PMID 24934289 2014 A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

PMID 25576308 2015 CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

PMID 25833818 2015 Mutation analysis of CHCHD10 in different neurodegenerative diseases.

PMID 28585542 2017 Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity.

PMID 25681414 2015 A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

PMID 25261972 2014 Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

PMID 26152333 2015 Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

PMID 29315381 2018 CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.

PMID 29789341 2018 A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

PMID 29121267 2018 Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.

PMID 25113787 2014 Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

rs587777574 in CHCHD10;LOC107985577 gene and MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT PMID 24934289 2014 A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

PMID 25833818 2015 Mutation analysis of CHCHD10 in different neurodegenerative diseases.

PMID 28585542 2017 Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity.

PMID 25681414 2015 A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

PMID 29121267 2018 Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.

PMID 25113787 2014 Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

PMID 25261972 2014 Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

PMID 29789341 2018 A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

PMID 29315381 2018 CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.

PMID 26152333 2015 Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

rs179468 in CHCHD10;LOC107985577 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs730880030 in CHCHD10;LOC107985577 gene and SPINAL MUSCULAR ATROPHY, JOKELA TYPE PMID 25113787 2014 Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

PMID 26152333 2015 Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

PMID 29315381 2018 CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.

PMID 29789341 2018 A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

PMID 25261972 2014 Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

PMID 28585542 2017 Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity.

PMID 25681414 2015 A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

PMID 29121267 2018 Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.

PMID 25833818 2015 Mutation analysis of CHCHD10 in different neurodegenerative diseases.

PMID 25428574 2015 Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.