{"symbol":"PEX5","synonyms":["PXR1","RCDP5","PBD2B","PBD2A","PTS1-BP","PTS1R"],"name":"peroxisomal biogenesis factor 5","description":"The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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 neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]","ncbiEntrezGeneId":5830,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5830","proteins":[{"symbol":"PEX5_HUMAN","href":"/api/1.0/protein/PEX5_HUMAN"}],"hgncRootFamilies":[{"name":"Tetratricopeptide repeat domain containing (TTC)","href":"/api/1.0/gene_family/Tetratricopeptide+repeat+domain+containing+%28TTC%29"}]}