ND6
entrez
4541
canonical
uniprot
P03923
canonical
ensembl
ENSG00000198695
resolver
ensp
ENSP00000354665
resolver
enst
ENST00000361681
resolver
genesymbol
MT-ND6
resolver
genesymbol
ND6
resolver
genesymbol_syn
MTND6
resolver
genesymbol_syn
NADH6
resolver
genesymbol_syn
ND6
resolver
hgnc
HGNC:7462
resolver
uniprot
A0A1X7RCR6
resolver
uniprot
Q34774
resolver
uniprot
Q8HG30
resolver
uniprot
U5Z977
resolver
uniprot_entry
NU6M_HUMAN
resolver
uniprot_entry
U5Z977_HUMAN
resolver
uniprot_sec
A0A1X7RCR6
resolver
uniprot_sec
Q34774
resolver
uniprot_sec
Q8HG30
resolver
amino_acid_sequence
MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN
uniprot
proteins
disease_involvement
DISEASE: Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO:0000269|PubMed:10447650, ECO:0000269|PubMed:11133798, ECO:0000269|PubMed:1417830, ECO:0000269|PubMed:35567411, ECO:0000269|PubMed:8854108, ECO:0000269|PubMed:9452107}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]: A form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. LDYT is characterized by the association of optic atrophy and central vision loss with dystonia. {ECO:0000269|PubMed:8016139, ECO:0000269|PubMed:8644732}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]: Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. {ECO:0000269|PubMed:11781695}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269|PubMed:14595656}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.1.1.2
uniprot
proteins
function
FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:14595656, PubMed:8644732). Essential for the catalytic activity and assembly of complex I (PubMed:14595656, PubMed:8644732). {ECO:0000269|PubMed:14595656, ECO:0000269|PubMed:8644732}.
uniprot
proteins
mass_dalton
18622
uniprot
proteins
protein_family
Complex I subunit 6 family
uniprot
proteins
pubmed
10447650
uniprot
proteins
pubmed
11130070
uniprot
proteins
pubmed
11133798
uniprot
proteins
pubmed
11781695
uniprot
proteins
pubmed
12840039
uniprot
proteins
pubmed
12949126
uniprot
proteins
pubmed
1417830
uniprot
proteins
pubmed
14595656
uniprot
proteins
pubmed
14760490
uniprot
proteins
pubmed
1757091
uniprot
proteins
pubmed
2043137
uniprot
proteins
pubmed
35567411
uniprot
proteins
pubmed
7219534
uniprot
proteins
pubmed
7530363
uniprot
proteins
pubmed
8016139
uniprot
proteins
pubmed
8644732
uniprot
proteins
pubmed
8854108
uniprot
proteins
pubmed
9452107
uniprot
proteins
sequence_length
174
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P03924}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 1..21; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 26..46; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 47..67; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 86..106; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 111..131; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 151..171; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins