| ncRNA Symbol: | PEX5 |
| Full Name: | peroxisomal biogenesis factor 5 |
| Category: | mRNA |
| Synonyms: | PBD2A|PBD2B|PTS1-BP|PTS1R|PXR1|RCDP5 |
| Chromosome: | chr12 |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 7188685 | End Site(bp): | 7218574 | |
| Gene Summary: | 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] |
| External Links: | |