Condition: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A


rs61752129 in PEX26 gene and PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A PMID 16257970 2006 Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.

PMID 12851857 2003 Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.

PMID 28944237 2017 Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

PMID 26627908 2015 Conserved targeting information in mammalian and fungal peroxisomal tail-anchored proteins.

PMID 26287655 2016 Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

PMID 12717447 2003 The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.