Entity Details

Primary name CHC10_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8WYQ3
EntryNameCHC10_HUMAN
FullNameCoiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length142
SequenceStatuscomplete
DateCreated2006-10-31
DateModified2021-06-02

Ontological Relatives

GenesCHCHD10

GO terms

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GOName
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0006119 oxidative phosphorylation
GO:0007005 mitochondrion organization
GO:0030322 stabilization of membrane potential
GO:0051457 maintenance of protein location in nucleus
GO:0061617 MICOS complex
GO:0065003 protein-containing complex assembly
GO:0090144 mitochondrial nucleoid organization
GO:0099558 maintenance of synapse structure
GO:1901030 positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway
GO:1903109 positive regulation of mitochondrial transcription
GO:1903852 positive regulation of cristae formation

Subcellular Location

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Subcellular Location
Mitochondrion intermembrane space

Domains

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DomainNameCategoryType
IPR010625 CHCHDomainDomain

Diseases

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Disease IDSourceNameDescription
615911 OMIMFrontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2)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. The disease is caused by variants 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).
615048 OMIMSpinal muscular atrophy, Jokela type (SMAJ)An autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder results in weakness and mild muscle atrophy later in life. The disease is caused by variants affecting the gene represented in this entry.
616209 OMIMMyopathy, isolated mitochondrial, autosomal dominant (IMMD)A mitochondrial myopathy presenting with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions