PPAPDC2
The ppapdc2 Gene: A Key Player in Neurodevelopment and Cancer
Description
The ppapdc2 gene, located on the human chromosome 2, encodes a protein known as phosphatidate phosphatase-2. This protein plays a crucial role in the metabolism of phospholipids, which are essential components of cell membranes. Phospholipids are involved in various cellular processes, including cell signaling, membrane stability, and cell growth.
Associated Diseases
Mutations in the ppapdc2 gene have been linked to several neurodevelopmental disorders and cancers:
- Autosomal Dominant Cerebral Ataxia (ADCA): Mutations in ppapdc2 are the most common cause of this rare inherited condition. ADCA affects the cerebellum, a brain region responsible for coordination and balance. Symptoms include difficulty walking, slurred speech, and tremors.
- Intellectual Disability: Mutations in ppapdc2 can also lead to intellectual disability, characterized by impaired cognitive abilities.
- Epilepsy: Some individuals with ppapdc2 mutations experience seizures.
- Cancer: ppapdc2 mutations have been associated with an increased risk of certain types of cancer, including breast cancer, lung cancer, and glioblastoma.
Did you Know ?
Approximately 1 in 20,000 people worldwide have a mutation in the ppapdc2 gene that can lead to ADCA.
