NDUFV2
entrez
4729
canonical
uniprot
P19404
canonical
ensembl
ENSG00000178127
resolver
ensp
ENSP00000327268
resolver
enst
ENST00000318388
resolver
genesymbol
NDUFV2
resolver
hgnc
HGNC:7717
resolver
uniprot
Q9BV41
resolver
uniprot_entry
NDUV2_HUMAN
resolver
uniprot_sec
Q9BV41
resolver
amino_acid_sequence
MFFSAALRARAAGLTAHWGRHVRNLHKTVMQNGAGGALFVHRDTPENNPDTPFDFTPENYKRIEAIVKNYPEGHKAAAVLPVLDLAQRQNGWLPISAMNKVAEVLQVPPMRVYEVATFYTMYNRKPVGKYHIQVCTTTPCMLRNSDSILEAIQKKLGIKVGETTPDKLFTLIEVECLGACVNAPMVQINDNYYEDLTAKDIEEIIDELKAGKIPKPGPRSGRFSCEPAGGLTSLTEPPKGPGFGVQAGL
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 7 (MC1DN7) [MIM:618229]: 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. MC1DN7 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:12754703, ECO:0000269|PubMed:26008862}. 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 (Probable). Parts of the peripheral arm of the enzyme, where the electrons from NADH are accepted by flavin mononucleotide (FMN) and then passed along a chain of iron-sulfur clusters by electron tunnelling to the final acceptor ubiquinone (Probable). Contains one iron-sulfur cluster (Probable). {ECO:0000305|PubMed:28844695}.
uniprot
proteins
mass_dalton
27392
uniprot
proteins
protein_family
Complex I 24 kDa subunit family
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
12754703
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22823520
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2500970
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26008862
uniprot
proteins
pubmed
28844695
uniprot
proteins
sequence_length
249
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P04394}; Peripheral membrane protein {ECO:0000250|UniProtKB:P04394}; Matrix side {ECO:0000250|UniProtKB:P04394}.
uniprot
proteins