Gene Symbol | PEX5 |
Entrez Gene ID | 5830 |
Full Name | peroxisomal biogenesis factor 5 |
Synonyms | PBD2A,PBD2B,PTS1-BP,PTS1R,PXR1,RCDP5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3); Peroxisome biogenesis disorder 2B, 202370 (3); Rhizomelic chondrodysplasia punctata, type 5, 616716 (3) |