PEX2, Official Symbol PEX2provided by HGNC Official Full Name peroxisomal biogenesis factor 2provided by HGNC Primary source HGNC:HGNC:9717 See related Ensembl:ENSG00000164751 MIM:170993; AllianceGenome:HGNC:9717 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PAF1; PMP3; ZWS3; PBD5A; PBD5B; PMP35; PXMP3; RNF72 Summary This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 10.2), urinary bladder (RPKM 7.9) and 25 other tissues See more Orthologs mouse all