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  • Molecular assay reagents intended to identify mutations in the peroxisome biogenesis factor 1 (PEX1) gene, located at chromosome 7q21-q22, which encodes for a member of the AAA ATPase family. This protein is cytoplasmic but is also associated with the peroxisomal membrane and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations at this locus have been identified in patients with early-onset Zellweger syndrome spectrum, a continuum of peroxisome biogenesis disorders including three well differentiated forms, from severe to mild.
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