The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12.
NDUFAB1 (NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1), also known as SDAP, ACP (acyl carrier protein) or FASN2A, is one of about 45 subunits comprising Complex I of the oxidative phosphorylation electron transport chain. Consisting of 156 amino acids and localizing to mitochondria, NDUFAB1 functions as an accessory subunit of the multi-protein mitochondrial membrane respiratory chain NADH dehydrogenase complex (known as Complex I). Complex I plays an important role in the transfer of electrons from NADH to the respiratory chain, a process that is essential for cellular respiration. NDUFAB1 contains one acyl carrier domain and is encoded by a gene that maps to human chromosome 16p12.2 and mouse chromosome 7 F3.
A synthesized peptide derived from human NDUFAF1, corresponding to a region within N-terminal amino acids.
This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19.
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