Mouse anti-Human/Mouse/Rat sapiens (Human) NDUFB10 Monoclonal Antibody

Function

Accessory subunit that is involved in the functional assembly of the mitochondrial respiratory chain complex I. Complex I has an NADH dehydrogenase activity with ubiquinone as an immediate electron acceptor and mediates the transfer of electrons from NADH to the respiratory chain

Subcellular Location

Mitochondrion inner membrane (Peripheral membrane protein)

Disease Association

Mitochondrial complex I deficiency, nuclear type 35 (MC1DN35) : 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. MC1DN35 transmission pattern is consistent with autosomal recessive inheritance. [The disease is caused by variants affecting the gene represented in this entry]

Subunit

Complex I is composed of 45 different subunits (PubMed:12611891, PubMed:27626371, PubMed:28040730). Interacts with CHCHD4; assists NDUFB10 oxidation, folding and import into mitochondrion (PubMed:28040730)

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• Wang L. et al. One subunit of human NADH-ubiquinone oxidoreductase, hPDSW, located at 16p13.3 and down-regulated in a prostate cell line. (AUG-)
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• Martin J. et al. The sequence and analysis of duplication-rich human chromosome 16. — Nature (2004)
• Mural R.J. et al. PubMed: CI-56FTJV1JKRRTT (SEP-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Murray J. et al. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. — J. Biol. Chem. (2003)
• Burkard T.R. et al. Initial characterization of the human central proteome. — BMC Syst. Biol. (2011)