PEX1 : peroxisomal biogenesis factor 1

Description

The PEX1 gene provides instructions for making a protein called peroxisome biogenesis factor 1 (PEX1). This protein is crucial for the formation and function of peroxisomes, small organelles within cells that play vital roles in various metabolic processes, including the breakdown of very long-chain fatty acids, the synthesis of bile acids, and the detoxification of harmful substances. PEX1 acts as a chaperone, guiding other proteins to peroxisomes, ensuring their proper assembly and function. Mutations in the PEX1 gene can lead to a group of inherited disorders known as peroxisome biogenesis disorders (PBDs), causing a wide range of health problems.

Associated Diseases

• Zellweger syndrome
• Neonatal adrenoleukodystrophy (NALD)
• Infantile Refsum disease
• Rhizomelic chondrodysplasia punctata type 1 (RCDP1)

Did you know?

PEX1 mutations are responsible for the most common form of Zellweger syndrome, a severe PBD that often results in death within the first year of life.