Rabbit NDUFV1 Polyclonal Antibody | anti-NDUFV1 antibody
NDUFV1 antibody - N-terminal region
Western Blot (WB)
(Host: RabbitTarget Name: NDUFV1Sample Type: Fetal liver Cell lysatesAntibody Dilution: 1.0ug/ml)
Western Blot (WB)
(Host: RabbitTarget Name: NDUFV1Sample Type: Fetal lung Cell lysatesAntibody Dilution: 1.0ug/ml)
Target Description: NDUFV1 is the 51-kD subunit of complex I (NADH:ubiquinone oxidoreductase) of the mitochondrial respiratory chain.The NDUFV1 gene encodes the 51-kD subunit of complex I (NADH:ubiquinone oxidoreductase) of the mitochondrial respiratory chain.[supplied by OMIM]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.
NCBI and Uniprot Product Information
NCBI Description
The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
Uniprot Description
NDUFV1: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for 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. Defects in NDUFV1 are a cause of Leigh syndrome (LS). LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions. Defects in NDUFV1 are a cause of mitochondrial complex I deficiency (MT-C1D). A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, 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. Belongs to the complex I 51 kDa subunit family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 1.6.99.3; EC 1.6.5.3; Energy Metabolism - oxidative phosphorylation; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: 11q13
Cellular Component: mitochondrial inner membrane; mitochondrial respiratory chain complex I
Molecular Function: NADH dehydrogenase (ubiquinone) activity; FMN binding; metal ion binding; 4 iron, 4 sulfur cluster binding; NAD binding
Biological Process: cellular metabolic process; mitochondrial electron transport, NADH to ubiquinone
Disease: Mitochondrial Complex I Deficiency