NDUFAF2
entrez
91942
canonical
uniprot
Q8N183
canonical
ensembl
ENSG00000164182
resolver
ensp
ENSP00000296597
resolver
enst
ENST00000296597
resolver
genesymbol
NDUFAF2
resolver
genesymbol_syn
NDUFA12L
resolver
hgnc
HGNC:28086
resolver
uniprot
A0A0S2Z5U1
resolver
uniprot
A8K5I1
resolver
uniprot_entry
A0A0S2Z5U1_HUMAN
resolver
uniprot_entry
NDUF2_HUMAN
resolver
uniprot_sec
A8K5I1
resolver
amino_acid_sequence
MGWSQDLFRALWRSLSREVKEHVGTDQFGNKYYYIPQYKNWRGQTIREKRIVEAANKKEVDYEAGDIPTEWEAWIRRTRKTPPTMEEILKNEKHREEIKIKSQDFYEKEKLLSKETSEELLPPPVQTQIKGHASAPYFGKEEPSVAPSSTGKTFQPGSWMPRDGKSHNQ
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 10 (MC1DN10) [MIM:618233]: 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. MC1DN10 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:16200211, ECO:0000269|PubMed:18180188, ECO:0000269|PubMed:19384974, ECO:0000269|PubMed:20571988}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). 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 (PubMed:16200211, PubMed:27626371). Is involved in the initial steps of cilia formation, including removal of CP110 from the mother centrioles, docking of membrane vesicles to the mother centrioles, and establishment of the transition zone (PubMed:38949024). {ECO:0000269|PubMed:16200211, ECO:0000269|PubMed:19384974, ECO:0000269|PubMed:27626371, ECO:0000269|PubMed:38949024}.
uniprot
proteins
mass_dalton
19856
uniprot
proteins
protein_family
Complex I NDUFA12 subunit family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15774466
uniprot
proteins
pubmed
16200211
uniprot
proteins
pubmed
18180188
uniprot
proteins
pubmed
19384974
uniprot
proteins
pubmed
20571988
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
38949024
uniprot
proteins
sequence_length
169
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:15774466}.
uniprot
proteins