Peroxisomal Biogenesis Factor 10 (PEX10)

PEX10 encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms.PEX10 expression morphologically and biochemically restored peroxisome biogenesis in fibroblasts from Zellweger patients of the complementation group called B in Japan and 7 in the U.S. One patient was found to be homozygous for an inactivating mutation, a 2-bp deletion immediately upstream of the RING motif, which resulted in a frameshift, altering 65 amino acids from the normal.