CHCHD10
entrez
400916
canonical
uniprot
Q8WYQ3
canonical
ensembl
ENSG00000250479
resolver
ensembl
ENSG00000273607
resolver
ensp
ENSP00000384973
resolver
ensp
ENSP00000418428
resolver
ensp
ENSP00000480602
resolver
ensp
ENSP00000487006
resolver
enst
ENST00000401675
resolver
enst
ENST00000484558
resolver
enst
ENST00000620558
resolver
enst
ENST00000629095
resolver
genesymbol
CHCHD10
resolver
genesymbol_syn
C22orf16
resolver
hgnc
HGNC:15559
resolver
uniprot
A8K0J5
resolver
uniprot
B5MBW9
resolver
uniprot_entry
B5MBW9_HUMAN
resolver
uniprot_entry
CHC10_HUMAN
resolver
uniprot_sec
A8K0J5
resolver
amino_acid_sequence
MPRGSRSAASRPASRPAAPSAHPPAHPPPSAAAPAPAPSGQPGLMAQMATTAAGVAVGSAVGHVMGSALTGAFSGGSSEPSQPAVQQAPTPAAPQPLQMGPCAYEIRQFLDCSTTQSDLSLCEGFSEALKQCKYYHGLSSLP
uniprot
proteins
disease_involvement
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 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). {ECO:0000269|PubMed:24934289}.; DISEASE: Spinal muscular atrophy, Jokela type (SMAJ) [MIM:615048]: 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. {ECO:0000269|PubMed:25428574}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myopathy, isolated mitochondrial, autosomal dominant (IMMD) [MIM:616209]: 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. {ECO:0000269|PubMed:25193783}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure. {ECO:0000269|PubMed:24934289}.
uniprot
proteins
mass_dalton
14149
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24934289
uniprot
proteins
pubmed
25155093
uniprot
proteins
pubmed
25193783
uniprot
proteins
pubmed
25428574
uniprot
proteins
sequence_length
142
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000269|PubMed:24934289}. Note=Enriched at the cristae junctions. {ECO:0000269|PubMed:24934289}.
uniprot
proteins