NDUFA2
entrez
4695
canonical
uniprot
O43678
canonical
ensembl
ENSG00000131495
resolver
ensp
ENSP00000252102
resolver
ensp
ENSP00000427220
resolver
genesymbol
NDUFA2
resolver
hgnc
HGNC:7685
resolver
uniprot
D6RJD6
resolver
uniprot
Q6IAY8
resolver
uniprot_entry
NDUA2_HUMAN
resolver
uniprot_sec
D6RJD6
resolver
uniprot_sec
Q6IAY8
resolver
amino_acid_sequence
MAAAAASRGVGAKLGLREIRIHLCQRSPGSQGVRDFIEKRYVELKKANPDLPILIRECSDVQPKLWARYAFGQETNVPLNNFSADQVTRALENVLSGKA
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 13 (MC1DN13) [MIM:618235]: 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. MC1DN13 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:18513682}. 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. 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}.
uniprot
proteins
mass_dalton
10922
uniprot
proteins
protein_family
Complex I NDUFA2 subunit family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
15341729
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18513682
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
9425316
uniprot
proteins
sequence_length
99
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Peripheral membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.
uniprot
proteins