| PEX1 |
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| Identifiers |
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| Aliases | PEX1, PBD1A, PBD1B, ZWS, ZWS1, HMLR1, peroxisomal biogenesis factor 1 |
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| External IDs | OMIM: 602136; MGI: 1918632; HomoloGene: 27006; GeneCards: PEX1; OMA:PEX1 - orthologs |
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| Gene location (Mouse) |
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| | Chr. | Chromosome 5 (mouse) |
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| | Band | 5|5 A1 | Start | 3,646,066 bp |
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| End | 3,687,232 bp |
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| Wikidata |
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Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene.
This gene encodes a member of the AAA protein 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.