VIPAS39

Description

The VIPAS39 gene, also known as the VPS39 gene, is an essential component of the cellular machinery involved in protein trafficking and vesicle-mediated transport. This complex process ensures that proteins reach their correct destinations within cells, crucial for a wide range of cellular functions. VIPAS39 plays a critical role in the formation and regulation of vesicles, small membrane-bound sacs that transport proteins, lipids, and other cellular components. Mutations in the VIPAS39 gene can disrupt this delicate balance, leading to various cellular dysfunctions and potentially contributing to the development of human diseases.

Associated Diseases

• Neurodevelopmental disorders
• Intellectual disability
• Cerebral palsy
• Epilepsy
• Autism spectrum disorder
• Lysosomal storage disorders

Did you know?

VIPAS39 is part of a larger protein complex called the retromer, which is responsible for recycling proteins from endosomes back to the Golgi apparatus, a critical step in maintaining proper cell function.