ADSS1
Description
The ADSS1 gene provides instructions for making an enzyme called adenylosuccinate synthetase. This enzyme plays a key role in purine metabolism, a vital biochemical process that involves the synthesis and breakdown of purines, essential components of DNA and RNA. ADSS1 catalyzes the conversion of IMP (inosine monophosphate) to AMP (adenosine monophosphate), a critical step in the production of adenine nucleotides, crucial for energy production and cellular signaling. The proper function of ADSS1 is essential for normal growth and development.
Associated Diseases
- Adenylosuccinate Lyase Deficiency (ADSL Deficiency): A rare genetic disorder characterized by a deficiency in the enzyme adenylosuccinate lyase, which leads to a buildup of adenylosuccinate and S-adenosylhomocysteine in the body. This can cause various neurological symptoms, including developmental delay, intellectual disability, and seizures.
- Myopathy: Some studies have linked ADSS1 gene variants to muscle weakness and myopathy. However, the precise role of ADSS1 in muscle function requires further investigation.
- Cancer: Certain ADSS1 variants have been associated with an increased risk of certain types of cancer, particularly leukemia. More research is needed to understand the connection between ADSS1 and cancer development.
- Other Disorders: ADSS1 gene mutations have been linked to other disorders, including neurodevelopmental disorders and mitochondrial dysfunction. The exact mechanisms involved remain to be fully elucidated.
Did you know?
ADSS1 is essential for the synthesis of adenine nucleotides, which are used in energy production and cellular signaling. In fact, adenine nucleotides are so crucial for life that they are considered the "currency" of energy transfer in the body.
