AHCY : adenosylhomocysteinase
Description
The AHCY gene, encodes for the enzyme S-adenosylhomocysteine hydrolase (AHCY). This enzyme plays a crucial role in the metabolism of adenosine homocysteine (AHC), a byproduct of various metabolic pathways. AHCY hydrolyzes AHC into adenosine and homocysteine, thereby regulating the intracellular levels of both metabolites. AHC is a potent inhibitor of various enzymatic reactions involved in DNA methylation, polyamine biosynthesis, and protein synthesis. Therefore, AHCY is essential for maintaining normal cellular function and preventing the accumulation of AHC, which can have detrimental effects on cellular processes.
Associated Diseases
- Hyperhomocysteinemia: Elevated levels of homocysteine in the blood, linked to increased risk of cardiovascular disease, stroke, and neural tube defects.
- Neurodevelopmental disorders: Mutations in the AHCY gene can lead to neurological disorders characterized by intellectual disability, developmental delay, and seizures.
- Cancer: Some studies suggest a potential link between AHCY activity and cancer development and progression.
- Metabolic disorders: AHCY deficiency can contribute to metabolic disturbances, such as increased risk of diabetes and fatty liver disease.
Did you know?
AHCY is one of the few enzymes that can directly break down AHC, a potent inhibitor of crucial metabolic processes.
