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CHCHD10 - coiled-coil-helix-coiled-coil-helix domain containing 10
- Synonym(s) : MIX17A, MIX17 homolog A, N27C7-4
- Previous symbols and names : C22orf16, chromosome 22 open reading frame 16
- Type : gene with protein product
- Chromosomal location : 22q11.23
- OMIM: 615903
- HGNC: 15559
- UniProtKB: Q8WYQ3
- Genatlas: CHCHD10
- Ensembl: ENSG00000250479
- IUPHAR-DB: -
- Reactome: Q8WYQ3
- LOVD: CHCHD10
Diseases list
- Disease-causing germline mutation(s) in Amyotrophic lateral sclerosis
ORPHA:803 
- Disease-causing germline mutation(s) in Autosomal dominant mitochondrial myopathy with exercise intolerance
ORPHA:457050 - Disease-causing germline mutation(s) in Frontotemporal dementia with motor neuron disease
ORPHA:275872 - Disease-causing germline mutation(s) in Lower motor neuron syndrome with late-adult onset
ORPHA:276435
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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