NDUFAF8
entrez
284184
canonical
uniprot
A1L188
canonical
ensembl
ENSG00000224877
resolver
ensp
ENSP00000400184
resolver
enst
ENST00000431388
resolver
genesymbol
NDUFAF8
resolver
genesymbol_syn
C17orf89
resolver
hgnc
HGNC:33551
resolver
uniprot_entry
NDUF8_HUMAN
resolver
amino_acid_sequence
MSANGAVWGRVRSRLRAFPERLAACGAEAAAYGRCVQASTAPGGRLSKDFCAREFEALRSCFAAAAKKTLEGGC
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 34 (MC1DN34) [MIM:618776]: 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. MC1DN34 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:31866046}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) (PubMed:27499296). Required to stabilize NDUFAF5 (PubMed:27499296). {ECO:0000269|PubMed:27499296}.
uniprot
proteins
mass_dalton
7756
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
27499296
uniprot
proteins
pubmed
31866046
uniprot
proteins
sequence_length
74
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:27499296}.
uniprot
proteins