NDUFS8
entrez
4728
canonical
uniprot
O00217
canonical
ensembl
ENSG00000110717
resolver
ensp
ENSP00000315774
resolver
ensp
ENSP00000522210
resolver
ensp
ENSP00000522211
resolver
ensp
ENSP00000522212
resolver
ensp
ENSP00000522213
resolver
ensp
ENSP00000522214
resolver
ensp
ENSP00000522215
resolver
ensp
ENSP00000615199
resolver
ensp
ENSP00000615200
resolver
ensp
ENSP00000615201
resolver
ensp
ENSP00000615202
resolver
ensp
ENSP00000615203
resolver
ensp
ENSP00000615204
resolver
ensp
ENSP00000615205
resolver
enst
ENST00000313468
resolver
enst
ENST00000852151
resolver
enst
ENST00000852152
resolver
enst
ENST00000852153
resolver
enst
ENST00000852154
resolver
enst
ENST00000852155
resolver
enst
ENST00000852156
resolver
enst
ENST00000945140
resolver
enst
ENST00000945141
resolver
enst
ENST00000945142
resolver
enst
ENST00000945143
resolver
enst
ENST00000945144
resolver
enst
ENST00000945145
resolver
enst
ENST00000945146
resolver
genesymbol
NDUFS8
resolver
hgnc
HGNC:7715
resolver
uniprot
B2RB86
resolver
uniprot
Q0VDA8
resolver
uniprot_entry
NDUS8_HUMAN
resolver
uniprot_sec
B2RB86
resolver
uniprot_sec
Q0VDA8
resolver
amino_acid_sequence
MRCLTTPMLLRALAQAARAGPPGGRSLHSSAVAATYKYVNMQDPEMDMKSVTDRAARTLLWTELFRGLGMTLSYLFREPATINYPFEKGPLSPRFRGEHALRRYPSGEERCIACKLCEAICPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQEACPVDAIVEGPNFEFSTETHEELLYNKEKLLNNGDKWEAEIAANIQADYLYR
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222]: 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. MC1DN2 inheritance is autosomal recessive. {ECO:0000269|PubMed:15159508, ECO:0000269|PubMed:16142472, ECO:0000269|PubMed:22499348, ECO:0000269|PubMed:9837812}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.1.1.2
uniprot
proteins
function
FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:22499348). Essential for the catalytic activity and assembly of complex I (PubMed:22499348). {ECO:0000269|PubMed:22499348}.
uniprot
proteins
mass_dalton
23705
uniprot
proteins
protein_family
Complex I 23 kDa subunit family
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15159508
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16142472
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22499348
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31536960
uniprot
proteins
pubmed
9116042
uniprot
proteins
pubmed
9666055
uniprot
proteins
pubmed
9837812
uniprot
proteins
sequence_length
210
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891, ECO:0000305|PubMed:9666055}; Peripheral membrane protein {ECO:0000250|UniProtKB:P42028}; Matrix side {ECO:0000250|UniProtKB:P42028}.
uniprot
proteins