NIPAL4

Description

The NIPAL4 gene provides instructions for making a protein called NIPAL4. This protein plays a crucial role in protein folding, a process essential for proper protein function. NIPAL4 is involved in the endoplasmic reticulum (ER), a cellular organelle responsible for protein synthesis and modification. It helps to ensure that newly synthesized proteins fold correctly and are transported to their appropriate destinations within the cell. Disruptions in NIPAL4 function can lead to the accumulation of misfolded proteins, which can trigger cellular stress and contribute to various diseases.

Associated Diseases

• Neurodevelopmental disorders
• Intellectual disability
• Epilepsy
• Cerebellar ataxia
• Spinal muscular atrophy
• Amyotrophic lateral sclerosis (ALS)

Did you know?

Mutations in the NIPAL4 gene have been associated with a rare neurological disorder characterized by intellectual disability, epilepsy, and cerebellar ataxia.