AGXTA

AGXTA activity levels can vary depending on age, gender, and genetic background, contributing to differences in oxalate metabolism and the risk of developing kidney stones.

AGXTA is a peroxisomal enzyme that participates in the glyoxylate metabolic pathway, which is vital for peroxisomal function and the maintenance of peroxisomal homeostasis.

AGXTA mutations result in the impaired function of the enzyme, leading to the accumulation of glyoxylate, which is then converted into oxalate. High oxalate levels can cause kidney stones and kidney damage.

Structural biology techniques can provide atomic-level details of AGXTA's active site and substrate-binding interactions, elucidating the enzymatic process of glyoxylate metabolism.

Mutations in the AGXT gene can lead to the deficiency or malfunction of AGXTA, causing PH1, a rare genetic disorder characterized by excessive oxalate accumulation and kidney stone formation.

AGXTA expression is regulated by various factors, including the peroxisome proliferator-activated receptor alpha (PPARα) and hepatocyte nuclear factor 4 alpha (HNF4α). It is predominantly expressed in the liver, but also found in the kidney and other tissues.

AGXTA may have interactions with other enzymes or proteins involved in peroxisomal metabolism and could play a role in various cellular processes beyond glyoxylate metabolism.

Yes, certain dietary components, such as vitamin B6, calcium, and oxalate-rich foods, can influence AGXTA activity and oxalate production, potentially impacting the development of kidney stones.

Pharmacogenomic studies can help identify genetic factors that influence individual responses to treatments, facilitating the development of personalized therapeutic strategies for PH1 patients.

Yes, AGXTA mutations or dysregulation have been associated with other conditions, such as focal segmental glomerulosclerosis (FSGS) and idiopathic calcium oxalate urolithiasis.