NDUFA8
entrez
4702
canonical
uniprot
P51970
canonical
ensembl
ENSG00000119421
resolver
ensp
ENSP00000362873
resolver
ensp
ENSP00000750150
resolver
enst
ENST00000373768
resolver
genesymbol
NDUFA8
resolver
hgnc
HGNC:7692
resolver
uniprot
B1AM93
resolver
uniprot
B7Z768
resolver
uniprot
Q9Y6N0
resolver
uniprot_entry
B7Z768_HUMAN
resolver
uniprot_entry
NDUA8_HUMAN
resolver
uniprot_sec
B1AM93
resolver
uniprot_sec
Q9Y6N0
resolver
amino_acid_sequence
MPGIVELPTLEELKVDEVKISSAVLKAAAHHYGAQCDKPNKEFMLCRWEEKDPRRCLEEGKLVNKCALDFFRQIKRHCAEPFTEYWTCIDYTGQQLFRHCRKQQAKFDECVLDKLGWVRPDLGELSKVTKVKTDRPLPENPYHSRPRPDPSPEIEGDLQPATHGSRFYFWTK
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 37 (MC1DN37) [MIM:619272]: 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. MC1DN37 features include developmental delay, cerebral atrophy, epilepsy, growth retardation, congenital myopathy with disproportion of fibers, and severely decreased activity of complex I. MC1DN37 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:32385911, ECO:0000269|PubMed:33153867}. 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 (PubMed:27626371, PubMed:32385911, PubMed:33153867). Complex I functions in the transfer of electrons from NADH to the respiratory chain (PubMed:27626371). The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:27626371). {ECO:0000269|PubMed:27626371, ECO:0000269|PubMed:32385911, ECO:0000269|PubMed:33153867}.
uniprot
proteins
mass_dalton
20105
uniprot
proteins
post_translational_modification
PTM: May contain intrachain disulfide bonds, as evidenced by its electrophoretic mobility under reducing vs non-reducing conditions. {ECO:0000269|PubMed:21310150}.
uniprot
proteins
protein_family
Complex I NDUFA8 subunit family
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21310150
uniprot
proteins
pubmed
23676665
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
32385911
uniprot
proteins
pubmed
33153867
uniprot
proteins
pubmed
9150947
uniprot
proteins
pubmed
9860297
uniprot
proteins
sequence_length
172
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:21310150}; Peripheral membrane protein {ECO:0000269|PubMed:21310150}. Mitochondrion intermembrane space {ECO:0000269|PubMed:21310150}. Mitochondrion {ECO:0000269|PubMed:23676665}.
uniprot
proteins