Condition: PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)


rs28940308 in PEX26 gene and PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) 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 15858711 2005 Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

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.