PARK16
Description
The PARK16 gene, also known as PACRG, plays a crucial role in the development and function of the nervous system. It encodes a protein involved in the formation of cilia, hair-like structures that extend from the surface of cells and play a vital role in cell signaling. Mutations in PARK16 have been linked to various neurodevelopmental and neurodegenerative disorders, highlighting its importance in maintaining neuronal health.
Associated Diseases
- Spinocerebellar ataxia type 17 (SCA17)
- Joubert syndrome
- Meckel-Gruber syndrome
- Hydrolethalus syndrome
- Cerebellar hypoplasia
- Intellectual disability
Did you know?
PARK16 gene mutations are associated with a wide range of neurological disorders, suggesting its complex and multifaceted role in neuronal function.
