NDUFB9

The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

Description

NADH:ubiquinone oxidoreductase subunit B9

Tissue specificity

Tissue enhanced (skeletal muscle, tongue)

Subcell location

Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

8 (124539101 - 124580648)

Ensembl ID

ENSG00000147684  (ver. 103.38)

Orthologs

Mouse Ndufb9: ENSMUSG00000022354

UniProt

Q9Y6M9

neXtProt

NX_Q9Y6M9

Human splice variants
Mouse splice variants

Protein structure