PEX12, Official Symbol PEX12provided by HGNC Official Full Name peroxisomal biogenesis factor 12provided by HGNC Primary source HGNC:HGNC:8854 See related Ensembl:ENSG00000108733 MIM:601758; AllianceGenome:HGNC:8854 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 PAF-3; PBD3A Summary This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 5.4) and 25 other tissues See more Orthologs mouse all