NDUFA12 Antibody (C-Term) Blocking Peptide

This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

NDUFA12: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be 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. Defects in NDUFA12 are the cause of Leigh syndrome (LS). An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Belongs to the complex I NDUFA12 subunit family.

Protein type: Oxidoreductase; Mitochondrial; EC 1.6.99.3; EC 1.6.5.3

Chromosomal Location of Human Ortholog: 12q22

Cellular Component: mitochondrial inner membrane; mitochondrial respiratory chain complex I

Biological Process: mitochondrial electron transport, NADH to ubiquinone; mitochondrial respiratory chain complex I assembly; response to oxidative stress

Disease: Leigh Syndrome