GCSH
Description
The GCSH gene, provides instructions for making the enzyme glycine cleavage system H protein (also known as protein P). This enzyme is a crucial component of the glycine cleavage system, a multi-enzyme complex responsible for the breakdown of glycine, the simplest amino acid. This process is essential for various metabolic pathways, including energy production, folate metabolism, and the synthesis of other amino acids. The GCSH gene‘s role in glycine metabolism is vital for normal brain development and function.
Associated Diseases
- Nonketotic Hyperglycinemia (NKH): A rare, severe metabolic disorder characterized by high levels of glycine in the blood and cerebrospinal fluid. It can lead to neurological problems, seizures, and developmental delays.
- Glycine Encephalopathy: A milder form of glycine accumulation in the brain, often associated with intellectual disabilities, movement disorders, and seizures.
- Spinal Muscular Atrophy (SMA): While not directly caused by GCSH mutations, mutations in the SMN1 gene can indirectly impact glycine metabolism and may be linked to impaired GCSH enzyme activity.
Did you know?
The glycine cleavage system is found in all living organisms, highlighting its fundamental importance in metabolism.
