Gene PEX1
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Also known as
PBD1A, ZWS1, Peroxin-1Overview
PEX1 (Peroxisomal Biogenesis Factor 1) encodes a protein that is essential for peroxisome assembly and function. Peroxisomes are cellular organelles involved in lipid metabolism, including the breakdown of very long-chain fatty acids and the synthesis of plasmalogens, which are important components of cell membranes. The PEX1 protein is an AAA-ATPase that works together with PEX6 to extract proteins from the peroxisomal membrane during the import process. Mutations in PEX1 are the most common cause of Zellweger spectrum disorders, a group of peroxisomal biogenesis disorders characterized by impaired peroxisome assembly and function.Zellweger spectrum disorders range in severity from Zellweger syndrome, the most severe form with onset in infancy, to milder forms such as infantile Refsum disease and neonatal adrenoleukodystrophy. These conditions affect multiple organ systems including the brain, liver, and kidneys. The severity depends on the specific mutations and their impact on PEX1 protein function. Understanding PEX1 variants is important for genetic counseling and early diagnosis of peroxisomal disorders.