Anti-NDUFV2 Antibody Picoband® Fluoro488 Conjugated

NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial (NDUFV2) is an enzyme that in humans is encoded by the NDUFV2 gene. The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19.

Ubiquitin carboxyl-terminal hydrolase 16; Deubiquitinating enzyme 16; Ubiquitin thioesterase 16; Ubiquitin-processing protease UBP-M; Ubiquitin-specific-processing protease 16; USP16; MSTP039

Present in all the tissues examined including fetal brain, lung, liver, kidney, and adult heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Specifically deubiquitinates 'Lys-120' of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Deubiquitination of histone H2A is a prerequisite for subsequent phosphorylation at 'Ser-11' of histone H3 (H3S10ph), and is required for chromosome segregation when cells enter into mitosis. In resting B- and T-lymphocytes, phosphorylation by AURKB leads to enhance its activity, thereby maintaining transcription in resting lymphocytes. Regulates Hox gene expression via histone H2A deubiquitination. Prefers nucleosomal substrates. Does not deubiquitinate histone H2B.

1. Benit, P., Beugnot, R., Chretien, D., Giurgea, I., De Lonlay-Debeney, P., Issartel, J.-P., Corral-Debrinski, M., Kerscher, S., Rustin, P., Rotig, A., Munnich, A. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum. Mutat. 21: 582-586, 2003. 2. Cameron, J. M., MacKay, N., Feigenbaum, A., Tarnopolsky, M., Blaser, S., Robinson, B. H., Schulze, A. Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. Europ. J. Paediat. Neurol. 19: 525-532, 2015. 3. de Coo, R., Buddiger, P., Smeets, H., Geurts van Kessel, A., Morgan-Hughes, J., Weghuis, D. O., Overhauser, J., van Oost, B. Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene. Genomics 26: 461-466, 1995.