Anti-FARS2 antibody

Supplementary info

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

Activity summary

The enzyme known as FARS2 or mitochondrial phenylalanyl-tRNA synthetase 2 plays an important role in mitochondrial protein synthesis. It catalyzes the attachment of phenylalanine to its corresponding tRNA a process essential for translating the genetic code into proteins within mitochondria. FARS2 has a molecular mass of approximately 53 kDa and is mainly expressed in tissues with high energy demands such as brain heart and skeletal muscle. This expression pattern highlights its importance in maintaining proper mitochondrial function.

Biological function summary

FARS2 functions primarily in the mitochondrial translation machinery where it ensures the proper incorporation of phenylalanine into mitochondrial proteins. It operates as a single monomeric enzyme rather than being part of a larger complex highlighting its unique role in mitochondrial biology. Mutations affecting FARS2 can disrupt mitochondrial translation and lead to malfunction of mitochondrial respiratory chain complexes impacting cellular energy production.

Pathways

FARS2 is integral to the mitochondrial translation pathway which plays a critical role in synthesizing proteins required for the oxidative phosphorylation system. This pathway includes various mitochondrial aminoacyl-tRNA synthetases and is closely related to the oxidative phosphorylation pathway. FARS2 interacts functionally with proteins involved in the electron transport chain such as those encoded by the mitochondrial DNA to ensure efficient energy production within cells.

Associated diseases and disorders

Mutations in FARS2 can lead to neurodegenerative conditions such as combined oxidative phosphorylation deficiency 14 and Alpers syndrome. These disorders highlight the enzyme's role in neural development and function. The disruption in mitochondrial translation caused by faulty FARS2 impacts proteins involved in the oxidative phosphorylation system such as NDUFB8 further exacerbating energy deficiency in affected tissues.