NDUFB9
entrez
4715
canonical
uniprot
Q9Y6M9
canonical
ensembl
ENSG00000147684
resolver
ensp
ENSP00000276689
resolver
ensp
ENSP00000430322
resolver
ensp
ENSP00000504235
resolver
enst
ENST00000276689
resolver
enst
ENST00000517367
resolver
enst
ENST00000677021
resolver
genesymbol
NDUFB9
resolver
genesymbol_syn
LYRM3
resolver
genesymbol_syn
UQOR22
resolver
hgnc
HGNC:7704
resolver
uniprot
B2R8M6
resolver
uniprot
E9PH64
resolver
uniprot
Q9UQE8
resolver
uniprot_entry
E9PH64_HUMAN
resolver
uniprot_entry
NDUB9_HUMAN
resolver
uniprot_sec
B2R8M6
resolver
uniprot_sec
Q9UQE8
resolver
amino_acid_sequence
MAFLASGPYLTHQQKVLRLYKRALRHLESWCVQRDKYRYFACLMRARFEEHKNEKDMAKATQLLKEAEEEFWYRQHPQPYIFPDSPGGTSYERYDCYKVPEWCLDDWHPSEKAMYPDYFAKREQWKKLRRESWEREVKQLQEETPPGGPLTEALPPARKEGDLPPLWWYIVTRPRERPM
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 24 (MC1DN24) [MIM:618245]: 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. MC1DN24 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:22200994}. 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. 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
21831
uniprot
proteins
protein_family
Complex I LYR family
uniprot
proteins
pubmed
10077726
uniprot
proteins
pubmed
10944468
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22200994
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
sequence_length
179
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Peripheral membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.
uniprot
proteins