C3orf60
entrez
25915
canonical
uniprot
Q9BU61
canonical
ensembl
ENSG00000178057
resolver
ensp
ENSP00000323003
resolver
ensp
ENSP00000323076
resolver
ensp
ENSP00000378843
resolver
ensp
ENSP00000402465
resolver
genesymbol
C3orf60
resolver
genesymbol
NDUFAF3
resolver
genesymbol_syn
C3orf60
resolver
hgnc
HGNC:29918
resolver
uniprot
A4FU71
resolver
uniprot_entry
A4FU71_HUMAN
resolver
uniprot_entry
NDUF3_HUMAN
resolver
amino_acid_sequence
MATALALRSLYRARPSLRCPPVELPWAPRRGHRLSPADDELYQRTRISLLQREAAQAMYIDSYNSRGFMINGNRVLGPCALLPHSVVQWNVGSHQDITEDSFSLFWLLEPRIEIVVVGTGDRTERLQSQVLQAMRQRGIAVEVQDTPNACATFNFLCHEGRVTGAALIPPPGGTSLTSLGQAAQ
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 18 (MC1DN18) [MIM:618240]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN18 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:19463981, ECO:0000269|PubMed:27986404}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). {ECO:0000269|PubMed:19463981}.
uniprot
proteins
mass_dalton
20350
uniprot
proteins
protein_family
NDUFAF3 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19463981
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27986404
uniprot
proteins
sequence_length
184
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Mitochondrion inner membrane {ECO:0000269|PubMed:19463981}.
uniprot
proteins