PARK16

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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.