PQLC3
PQLC3 Gene: An Essential Player in Neurodevelopment and Neurological Disorders
Description
The PQLC3 gene encodes the prenyl-binding protein PQLC3, which plays a crucial role in the trafficking and localization of prenylated proteins within the cell. Prenylated proteins are modified with lipid molecules called prenyl groups, which facilitate their attachment to cell membranes and involvement in various cellular processes.
Associated Diseases
Mutations in the PQLC3 gene have been linked to a range of neurological disorders, including:
- Infantile-onset epileptic encephalopathy (IEE): A severe neurodevelopmental disorder characterized by intractable seizures, developmental delay, and regression.
- Ataxia-telangiectasia-like disorder (ATLD): A neurodegenerative disorder similar to ataxia-telangiectasia, causing movement problems, immune dysfunction, and increased risk of cancer.
- Pontocerebellar hypoplasia (PCH): A developmental disorder affecting the brain's cerebellum and pons, leading to intellectual disability, motor problems, and breathing difficulties.
Did you Know ?
Approximately 1 in 200,000 people worldwide are affected by IEE, one of the primary disorders associated with PQLC3 mutations.
