background:
NDUFA1 (NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1) is an essential component of the multisubunit NADH ubiquinone oxidoreductase (complex 1), the first enzyme complex in the mitochondrial respiratory chain. Complex I transfers electrons from NADH to the respiratory chain via ubiquinone.
Function:
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.
Subunit:
Complex I is composed of 45 different subunits.
Subcellular Location:
Mitochondrion inner membrane; Single-pass membrane protein; Matrix side.
Tissue Specificity:
Primarily expressed in heart and skeletal muscle.
DISEASE:
Defects in NDUFA1 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. 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.
Similarity:
Belongs to the complex I NDUFA1 subunit family.
Database links:
UniProtKB/Swiss-Prot: O15239.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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