NDUFB8
entrez
4714
canonical
uniprot
O95169
canonical
ensembl
ENSG00000166136
resolver
ensembl
ENSG00000255339
resolver
ensp
ENSP00000299166
resolver
ensp
ENSP00000359344
resolver
ensp
ENSP00000359346
resolver
genesymbol
NDUFB8
resolver
hgnc
HGNC:7703
resolver
uniprot
A8K0L4
resolver
uniprot
Q5W143
resolver
uniprot
Q5W144
resolver
uniprot
Q5W145
resolver
uniprot
Q9UG53
resolver
uniprot
Q9UJR4
resolver
uniprot
Q9UQF3
resolver
uniprot_entry
NDUB8_HUMAN
resolver
uniprot_sec
A8K0L4
resolver
uniprot_sec
Q5W143
resolver
uniprot_sec
Q5W144
resolver
uniprot_sec
Q5W145
resolver
uniprot_sec
Q9UG53
resolver
uniprot_sec
Q9UJR4
resolver
uniprot_sec
Q9UQF3
resolver
amino_acid_sequence
MAVARAGVLGVQWLQRASRNVMPLGARTASHMTKDMFPGPYPRTPEERAAAAKKYNMRVEDYEPYPDDGMGYGDYPKLPDRSQHERDPWYSWDQPGLRLNWGEPMHWHLDMYNRNRVDTSPTPVSWHVMCMQLFGFLAFMIFMCWVGDVYPVYQPVGPKQYPYNNLYLERGGDPSKEPERVVHYEI
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252]: 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. MC1DN32 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:29429571}. 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
21766
uniprot
proteins
protein_family
Complex I NDUFB8 subunit family
uniprot
proteins
pubmed
10570959
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
29429571
uniprot
proteins
pubmed
9878551
uniprot
proteins
sequence_length
186
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 133..153; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins