NDUFAF6
entrez
137682
canonical
uniprot
Q330K2
canonical
ensembl
ENSG00000156170
resolver
ensp
ENSP00000379417
resolver
ensp
ENSP00000379419
resolver
ensp
ENSP00000379430
resolver
ensp
ENSP00000513278
resolver
enst
ENST00000396111
resolver
enst
ENST00000396113
resolver
enst
ENST00000697364
resolver
genesymbol
NDUFAF6
resolver
genesymbol_syn
C8orf38
resolver
hgnc
HGNC:28625
resolver
uniprot
A0A075B6P0
resolver
uniprot
A8MT28
resolver
uniprot
A8MWF0
resolver
uniprot
B4DQ45
resolver
uniprot
Q8N6U6
resolver
uniprot_entry
A0A075B6P0_HUMAN
resolver
uniprot_entry
NDUF6_HUMAN
resolver
uniprot_sec
A8MT28
resolver
uniprot_sec
A8MWF0
resolver
uniprot_sec
B4DQ45
resolver
uniprot_sec
Q8N6U6
resolver
amino_acid_sequence
MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGRSVAAASGPGAWGTDHYCLELLRKRDYEGYLCSLLLPAESRSSVFALRAFNVELAQVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHGVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]: 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. MC1DN17 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:18614015, ECO:0000269|PubMed:22019594, ECO:0000269|PubMed:26741492, ECO:0000269|PubMed:27623250, ECO:0000269|PubMed:29531337, ECO:0000269|PubMed:30642748}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Fanconi renotubular syndrome 5 (FRTS5) [MIM:618913]: A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS5 is an autosomal recessive mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. {ECO:0000269|PubMed:27466185}. Note=The disease is caused by variants affecting the gene represented in this entry. A homozygous disease-causing variant located in intron 2 leads to aberrant splicing and altered isoform synthesis. Kidney and lung tissues from affected individuals show specific loss of mitochondrial isoform 1. Patient cells show defects in mitochondrial complex I assembly and altered mitochondrial respiration. {ECO:0000269|PubMed:27466185}.
uniprot
proteins
function
FUNCTION: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of complex I subunit MT-ND1. {ECO:0000269|PubMed:18614015, ECO:0000269|PubMed:22019594}.
uniprot
proteins
mass_dalton
38176
uniprot
proteins
protein_family
NDUFAF6 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
18614015
uniprot
proteins
pubmed
22019594
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26741492
uniprot
proteins
pubmed
27466185
uniprot
proteins
pubmed
27623250
uniprot
proteins
pubmed
29531337
uniprot
proteins
pubmed
30642748
uniprot
proteins
sequence_length
333
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion inner membrane. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm. Nucleus.
uniprot
proteins