Anti-PNPT1 antibody

Supplementary info

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

Activity summary

PNPT1 also known as polyribonucleotide nucleotidyltransferase 1 or mitochondrial RNA polymerase is an enzyme with a molecular weight of approximately 85 kDa. The protein is widely expressed in cellular mitochondria and cytoplasm where it performs its essential functions in RNA processing. It aids in the degradation and processing of mitochondrial RNA reflecting its significant role in mitochondrial function. The protein's activity relies heavily on its conserved domains that are necessary for effective RNA binding and hydrolysis.

Biological function summary

PNPT1 plays a critical role in maintaining mitochondrial gene expression and is a component of the RNA-degrading exosome complex. This complex is involved in the surveillance and breakdown of defective RNA molecules thereby ensuring the integrity and balance of the mitochondrial transcriptome. By participating in these processes PNPT1 helps to enhance the overall mitochondrial function which is vital for energy production and cell metabolism.

Pathways

PNPT1 significantly contributes to the mitochondrial RNA decay pathway and the broader RNA processing pathways related to mitochondrial maintenance. It interacts with other proteins such as polynucleotide phosphorylase domain-containing proteins which are involved in similar RNA processing functions. This integration highlights the coordinated network of proteins that cooperate to ensure proper mitochondrial RNA metabolism affecting both the quality and quantity of the RNA molecules available for translation.

Associated diseases and disorders

Mutations or dysregulations in PNPT1 are linked to mitochondrial disorders such as autosomal recessive combined oxidative phosphorylation deficiency. These disorders often exhibit symptoms like muscle weakness developmental delays and other systemic issues due to compromised energy production. Additionally studies indicate a possible connection between PNPT1 dysfunction and neurodegenerative disorders where its interaction with proteins like TYMP (thymidine phosphorylase) can lead to mitochondrial dysfunction and subsequent disease progression.