Entrez gene ID | | 5830 |
Official gene symbol | | PEX5 |
Full name | | peroxisomal biogenesis factor 5 |
Aliases | | ,FLJ50634,FLJ50721,FLJ51948,PTS1-BP,PTS1R,PXR1, |
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] |
Location | | Chromosome: 12 Locus: 12p13.31 |
Gene position | | 7341759 - 7371170 Map Viewer |
Gene orientation | | plus |
Gene size | | 29412 bp |
Gene sequence |
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OMIM ID | | 600414 |
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