| Protein Name | peroxisomal biogenesis factor 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 5189 |
| Gene Symbol | PEX1 |
| UniProt | O43933 (PEX1_HUMAN), A0A0C4DG33 (A0A0C4DG33_HUMAN), B4DER6 (B4DER6_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
23
Total Number of Articles : 21 |
Description |
peroxisomal biogenesis factor 1 |
| Gene Summary |
This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013] |
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