NDUFA6
entrez
4700
canonical
uniprot
P56556
canonical
ensembl
ENSG00000184983
resolver
ensembl
ENSG00000272765
resolver
ensembl
ENSG00000273397
resolver
ensembl
ENSG00000277365
resolver
ensembl
ENSG00000281013
resolver
ensp
ENSP00000418842
resolver
ensp
ENSP00000475402
resolver
ensp
ENSP00000475816
resolver
ensp
ENSP00000482543
resolver
ensp
ENSP00000484723
resolver
ensp
ENSP00000486781
resolver
ensp
ENSP00000487431
resolver
ensp
ENSP00000487462
resolver
enst
ENST00000498737
resolver
enst
ENST00000605916
resolver
enst
ENST00000605927
resolver
enst
ENST00000610887
resolver
enst
ENST00000617763
resolver
enst
ENST00000628740
resolver
enst
ENST00000630201
resolver
enst
ENST00000630971
resolver
genesymbol
NDUFA6
resolver
genesymbol_syn
LYRM6
resolver
genesymbol_syn
NADHB14
resolver
hgnc
HGNC:7690
resolver
uniprot
A0A2Y9D025
resolver
uniprot
B2RE54
resolver
uniprot
O43675
resolver
uniprot
Q6FGW0
resolver
uniprot
Q6IBT8
resolver
uniprot
Q6IC39
resolver
uniprot_entry
A0A2Y9D025_HUMAN
resolver
uniprot_entry
NDUA6_HUMAN
resolver
uniprot_sec
B2RE54
resolver
uniprot_sec
O43675
resolver
uniprot_sec
Q6FGW0
resolver
uniprot_sec
Q6IBT8
resolver
uniprot_sec
Q6IC39
resolver
amino_acid_sequence
MAGSGVRQATSTASTFVKPIFSRDMNEAKRRVRELYRAWYREVPNTVHQFQLDITVKMGRDKVREMFMKNAHVTDPRVVDLLVIKGKIELEETIKVWKQRTHVMRFFHETEAPRPKDFLSKFYVGHDP
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 33 (MC1DN33) [MIM:618253]: 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. MC1DN33 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:30245030}. 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 to be not involved in catalysis. Required for proper complex I assembly (PubMed:30245030). 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, ECO:0000269|PubMed:30245030}.
uniprot
proteins
mass_dalton
15137
uniprot
proteins
protein_family
Complex I LYR family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
30245030
uniprot
proteins
pubmed
9425316
uniprot
proteins
sequence_length
128
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Peripheral membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.
uniprot
proteins