PEX6

Description

The PEX6 gene provides instructions for making a protein called peroxisome biogenesis factor 6. This protein is essential for the assembly and function of peroxisomes, tiny organelles that play vital roles in various cellular processes, including the breakdown of fatty acids and the synthesis of bile acids and certain lipids. PEX6, along with other PEX proteins, acts as a shuttle, transporting proteins destined for peroxisomes to their proper location. Defects in this gene can lead to a variety of health problems, primarily affecting the nervous system, liver, and kidneys.

Associated Diseases

• Zellweger Spectrum Disorder (ZSD)
• Neonatal Adrenoleukodystrophy (NALD)
• Infantile Refsum Disease (IRD)
• Rhizomelic Chondrodysplasia Punctata (RCDP)
• Hyperpipecolic Aciduria

Did you know?

PEX6 mutations are the most common cause of Zellweger Spectrum Disorder, a severe neurological disorder that affects brain development and function.