Probable Methyltransferase (C20ORF7) ELISA Kit for Human

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 a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

NDUFAF5: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity. Defects in NDUFAF5 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. Defects in NDUFAF5 are a 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 methyltransferase superfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.1.1.-; Methyltransferase; Mitochondrial

Chromosomal Location of Human Ortholog: 20p12.1

Cellular Component: mitochondrial inner membrane; mitochondrion

Molecular Function: methyltransferase activity; oxidoreductase activity; protein binding

Biological Process: methylation; mitochondrial respiratory chain complex I assembly; peptidyl-arginine hydroxylation

Disease: Mitochondrial Complex I Deficiency