PTS1R

PTS1R is a gene that encodes a protein involved in cellular stress response and DNA repair. The protein, also known as Peroxisome Targeting Signal Receptor 1, plays a crucial role in the transport of proteins into peroxisomes. Peroxisomes are organelles within cells that perform various metabolic functions, including the breakdown of fatty acids and the detoxification of harmful substances. The PTS1R protein specifically recognizes and binds to a particular sequence on other proteins, known as the peroxisome targeting signal type 1 (PTS1), facilitating their translocation into the peroxisome.

Mutations in the PTS1R gene have been linked to certain human diseases, though research is ongoing. These diseases can affect various physiological processes due to impaired peroxisome function. The precise mechanisms by which PTS1R dysfunction contributes to disease are still being investigated, but it is understood to disrupt the proper localization and activity of essential peroxisomal enzymes. Studies have explored the involvement of PTS1R in neurodevelopmental disorders and metabolic conditions. Further research is aimed at understanding the full spectrum of PTS1R's functions and its implications in health and disease.