NDUFB7
entrez
4713
canonical
uniprot
P17568
canonical
ensembl
ENSG00000099795
resolver
ensp
ENSP00000215565
resolver
enst
ENST00000215565
resolver
genesymbol
NDUFB7
resolver
hgnc
HGNC:7702
resolver
uniprot
Q6ICN9
resolver
uniprot
Q9UI16
resolver
uniprot_entry
NDUB7_HUMAN
resolver
uniprot_sec
Q6ICN9
resolver
uniprot_sec
Q9UI16
resolver
amino_acid_sequence
MGAHLVRRYLGDASVEPDPLQMPTFPPDYGFPERKEREMVATQQEMMDAQLRLQLRDYCAHHLIRLLKCKRDSFPNFLACKQERHDWDYCEHRDYVMRMKEFERERRLLQRKKRREKKAAELAKGQGPGEVDPKVAL
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 39 (MC1DN39) [MIM:620135]: 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. MC1DN39 is an autosomal recessive form characterized by intrauterine growth retardation, anemia, and postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with a fatal outcome. {ECO:0000269|PubMed:33502047}. 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, ECO:0000269|PubMed:33502047}.
uniprot
proteins
mass_dalton
16402
uniprot
proteins
protein_family
Complex I NDUFB7 subunit family
uniprot
proteins
pubmed
10830904
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21310150
uniprot
proteins
pubmed
2302251
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
33502047
uniprot
proteins
sequence_length
137
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:21310150}; Peripheral membrane protein {ECO:0000269|PubMed:21310150}. Mitochondrion intermembrane space {ECO:0000269|PubMed:21310150}.
uniprot
proteins