| Entrez Gene ID |
5830 (NCBI Gene) |
| Official Gene Symbol |
PEX5 (GeneCards) |
| Number of variants in PEX5 in this database |
1 (view all the variants) |
| Full name |
peroxisomal biogenesis factor 5 |
| Band |
12p13.31 |
| Other IDs |
Vega:
OTTHUMG00000168175
OMIM:
600414
HGNC:
HGNC:9719
Ensembl:
ENSG00000139197
|
| Other names |
PXR1,
PBD2A,
PBD2B,
PTS1R,
RCDP5,
PTS1-BP
|
| 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] |