Anti-TIMMDC1/C3orf1 antibody [EPR11807]

Supplementary info

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

Activity summary

TIMMDC1 also known as C3orf1 is a mitochondrial protein with a mass of approximately 34 kDa. It plays a mechanical role in the assembly of mitochondrial respiratory chain complex I. It becomes integrated into the inner mitochondrial membrane where it acts as an important assembly factor. TIMMDC1 is expressed ubiquitously across various human tissues with relatively higher levels in tissues with high energy demands like the heart and skeletal muscle.

Biological function summary

TIMMDC1 is essential in maintaining cellular energy metabolism. It is a component of the mitochondrial complex I assembly pathway critical for the formation and stabilization of the entire complex I. Complex I is responsible for the initial steps of the electron transport chain important for ATP production via oxidative phosphorylation. TIMMDC1 interacts with other complex I assembly factors contributing to the efficient generation of ATP within mitochondria.

Pathways

TIMMDC1 has a significant impact on the oxidative phosphorylation pathway and is a pivotal part of the mitochondrial respiratory chain. Its activity influences cellular respiration by assisting the functional integrity of complex I which interacts closely with other oxidative phosphorylation participants such as NADH dehydrogenase (ubiquinone) and cytochrome c oxidase. TIMMDC1 plays its role alongside these proteins facilitating the production of energy that cells require for various metabolic processes.

Associated diseases and disorders

Defects in TIMMDC1 have been linked to mitochondrial complex I deficiency a condition that can result in a spectrum of disorders such as Leigh syndrome and other encephalomyopathies. This protein's malfunction can disrupt normal energy production leading to energy deficits in cells particularly in the nervous system and muscles. Additionally disruptions in the TIMMDC1 protein interaction with other mitochondrial proteins can exacerbate disease phenotypes such as with NDUFAF3 another mitochondrial assembly factor associated with complex I deficiency.