MitoProteome Database

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MT001663

UniProt Annotations

Entry Information

Gene Name	coiled-coil-helix-coiled-coil-helix domain containing 10
Protein Entry	CHC10_HUMAN
UniProt ID	Q8WYQ3
Species	Human

Comments

Comment type	Description
Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) [MIM:615911]: A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. {ECO:0000269\|PubMed:24934289, ECO:0000269\|PubMed:25155093}. Note=The disease is caused by mutations affecting the gene represented in this entry. The pathological events leading to disease involve fragmentation of the mitochondrial network, mitochondrial ultrastructural abnormalities including loss, disorganization and dilatation of cristae, and mitochondrial dysfunction associated with respiratory chain deficiency (PubMed:24934289). {ECO:0000269\|PubMed:24934289}.
Function	May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure. {ECO:0000269\|PubMed:24934289}.
Similarity	Contains 1 CHCH domain. {ECO:0000305}.
Subcellular Location	Mitochondrion intermembrane space {ECO:0000269\|PubMed:24934289}. Note=Enriched at the cristae junctions. {ECO:0000269\|PubMed:24934289}.
Tissue Specificity	Ubiquitously expressed. Higher expression is observed in heart and liver. {ECO:0000269\|PubMed:24934289}.