NDUFC2
entrez
4718
canonical
uniprot
O95298
canonical
ensembl
ENSG00000151366
resolver
ensp
ENSP00000281031
resolver
ensp
ENSP00000432739
resolver
ensp
ENSP00000434262
resolver
genesymbol
NDUFC2
resolver
hgnc
HGNC:7706
resolver
uniprot
E9PNU8
resolver
uniprot
E9PRB2
resolver
uniprot
Q549M5
resolver
uniprot
Q6FIH8
resolver
uniprot
Q9UBJ9
resolver
uniprot_entry
NDUC2_HUMAN
resolver
uniprot_sec
E9PNU8
resolver
uniprot_sec
E9PRB2
resolver
uniprot_sec
Q549M5
resolver
uniprot_sec
Q6FIH8
resolver
uniprot_sec
Q9UBJ9
resolver
amino_acid_sequence
MIARRNPEPLRFLPDEARSLPPPKLTDPRLLYIGFLGYCSGLIDNLIRRRPIATAGLHRQLLYITAFFFAGYYLVKREDYLYAVRDREMFGYMKLHPEDFPEEDKKTYGEIFEKFHPIR
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 36 (MC1DN36) [MIM:619170]: 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. MC1DN36 is characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. MC1DN36 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:32969598}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis but required for the complex assembly. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. {ECO:0000269|PubMed:27626371, ECO:0000269|PubMed:32969598}.
uniprot
proteins
mass_dalton
14188
uniprot
proteins
protein_family
Complex I NDUFC2 subunit family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
32969598
uniprot
proteins
pubmed
33753518
uniprot
proteins
pubmed
9878551
uniprot
proteins
sequence_length
119
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Single-pass membrane protein {ECO:0000255}; Matrix side {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 56..75; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins