AV128229, Gm142, MGC1998, NALD, OTTHUMP00000001658, PBD6A, PBD6B, peroxin 10, Peroxin-10, Peroxisomal biogenesis factor 10, Peroxisome assembly protein 10, Peroxisome biogenesis factor 10, PEX10, PEX10_HUMAN, RING finger protein 69, RNF69, RP23-298E4.1.
This gene 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. [provided by RefSeq, Jul 2008]
