NDUFS6
entrez
4726
canonical
uniprot
O75380
canonical
ensembl
ENSG00000145494
resolver
ensp
ENSP00000274137
resolver
enst
ENST00000274137
resolver
genesymbol
NDUFS6
resolver
hgnc
HGNC:7713
resolver
uniprot
Q6IBC4
resolver
uniprot_entry
NDUS6_HUMAN
resolver
uniprot_entry
Q6IBC4_HUMAN
resolver
amino_acid_sequence
MAAAMTFCRLLNRCGEAARSLPLGARCFGVRVSPTGEKVTHTGQVYDDKDYRRIRFVGRQKEVNENFAIDLIAEQPVSEVETRVIACDGGGGALGHPKVYINLDKETKTGTCGYCGLQFRQHHH
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 9 (MC1DN9) [MIM:618232]: 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. MC1DN9 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:15372108, ECO:0000269|PubMed:19259137}. 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
13712
uniprot
proteins
protein_family
Complex I NDUFS6 subunit family
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
15372108
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19259137
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
9647766
uniprot
proteins
sequence_length
124
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Peripheral membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.
uniprot
proteins