NDUFA12
entrez
55967
canonical
uniprot
Q9UI09
canonical
ensembl
ENSG00000184752
resolver
ensp
ENSP00000330737
resolver
ensp
ENSP00000450130
resolver
genesymbol
NDUFA12
resolver
genesymbol_syn
DAP13
resolver
hgnc
HGNC:23987
resolver
uniprot
F8VQS7
resolver
uniprot
Q53XX0
resolver
uniprot
Q9BRV6
resolver
uniprot_entry
NDUAC_HUMAN
resolver
uniprot_sec
F8VQS7
resolver
uniprot_sec
Q53XX0
resolver
uniprot_sec
Q9BRV6
resolver
amino_acid_sequence
MELVQVLKRGLQQITGHGGLRGYLRVFFRTNDAKVGTLVGEDKYGNKYYEDNKQFFGRHRWVVYTTEMNGKNTFWDVDGSMVPPEWHRWLHSMTDDPPTTKPLTARKFIWTNHKFNVTGTPEQYVPYSTTRKKIQEWIPPSTPYK
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 23 (MC1DN23) [MIM:618244]: 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. MC1DN23 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:21617257}. 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
17114
uniprot
proteins
protein_family
Complex I NDUFA12 subunit family
uniprot
proteins
pubmed
10830904
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21617257
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
sequence_length
145
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Peripheral membrane protein {ECO:0000255}; Matrix side {ECO:0000305}.
uniprot
proteins