Relevance to Autism

Genetic association has been found between the PEX7 gene and ASD in a Korean population cohort (Ro et al., 2012). A homozygous loss-of-function missense variant in the PEX7 gene was identified in three affected children born to consanguineous parents from a multiplex ASD pedigree; this variant was heterozygous in both parents and in three unaffected children (Yu et al., 2013).

Molecular Function

This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function.

External Links

References