Anti-NDUFAF1 antibody [EPR2795] - BSA and Azide free

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

NDUFAF1 also known as NADH dehydrogenase (ubiquinone) complex I assembly factor 1 plays an essential role in the mitochondrial respiratory chain by assisting the assembly of complex I. This protein has a mass of approximately 36 kDa. NDUFAF1 expression occurs mainly in tissues with high metabolic activity like the brain heart and skeletal muscle. It facilitates the proper formation and function of the complex I assembly allowing efficient electron transport essential for cellular respiration.

Biological function summary

NDUFAF1 is a critical assembly factor integral to forming the mitochondrial complex I also known as NADH:ubiquinone oxidoreductase. NDUFAF1 contributes to the stability and proper function of this multi-component enzyme system which is important in cellular energy production. As part of the complex it ensures efficient ATP generation through oxidative phosphorylation which is the primary source of energy in aerobic eukaryotic cells.

Pathways

NDUFAF1 functions predominantly in the oxidative phosphorylation pathway. This involvement connects NDUFAF1 to the fundamental molecular processes sustaining life. The protein plays a role alongside others like NDUFV1 and NDUFS1 in maintaining complex I activity. These relationships ensure the effective transfer of electrons from NADH to ubiquinone promoting efficient energy production throughout the cell.

Associated diseases and disorders

NDUFAF1 mutations or dysfunction have been linked to mitochondrial disorders such as Leigh syndrome and complex I deficiency. These conditions are often characterized by a disruption in mitochondrial energy metabolism leading to severe neurological and muscular symptoms. Furthermore NDUFAF1 dysfunction can indirectly affect other proteins like NDUFS4 which is also involved in complex I assembly and function exacerbating the disease phenotypes. Mitochondrial diseases often arise from impaired pathways involving several network proteins highlighting the significance of proper NDUFAF1 function.