AGXT : alanine--glyoxylate aminotransferase


Alanine-Glyoxylate Aminotransferase (AGXT): An Essential Enzyme for Liver Function and Cell Detoxification

Description

The AGXT gene is responsible for encoding an enzyme called alanine-glyoxylate aminotransferase (AGT). This enzyme plays a vital role in liver function, specifically within cellular structures known as peroxisomes. Peroxisomes are responsible for various crucial cellular activities, including detoxification and the breakdown of certain fats.

Function

Within the peroxisome, AGT catalyzes the conversion of glyoxylate, a toxic compound produced during the metabolism of amino acids, into glycine, which is an essential amino acid used in protein synthesis. This process is crucial for eliminating toxic substances from the cell and maintaining cellular health.

Associated Diseases

Defects in the AGXT gene have been linked to several medical conditions, including:

  • Primary hyperoxaluria type 1 (PH1): PH1 is an inherited metabolic disorder characterized by excessive production of oxalate, leading to kidney stones and kidney failure.
  • Sclerosing cholangitis: This rare liver disease involves the inflammation and scarring of the bile ducts.
  • Peroxisomal disorders: A group of genetic conditions affecting peroxisomal function, including Zellweger syndrome and neonatal adrenoleukodystrophy.

Did you Know ?

Approximately 1 in 20,000 people worldwide is affected by PH1, the most common disease associated with AGXT deficiency.


Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.