NDUFA12 Antibody – Rabbit Polyclonal

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: mitochondrion; cytoplasm; mitochondrial inner membrane; mitochondrial respiratory chain complex I

Molecular Function: NADH dehydrogenase (ubiquinone) activity; electron carrier activity

Biological Process: cellular metabolic process; response to oxidative stress; respiratory gaseous exchange

Disease: Leigh Syndrome