PEX1

PEX1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPEX1, PBD1A, PBD1B, ZWS, ZWS1, HMLR1, peroxisomal biogenesis factor 1
External IDsOMIM: 602136; MGI: 1918632; HomoloGene: 27006; GeneCards: PEX1; OMA:PEX1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

5189

71382

Ensembl

ENSG00000127980

ENSMUSG00000005907

UniProt

O43933

Q5BL07

RefSeq (mRNA)

NM_000466
NM_001282677
NM_001282678

NM_001293806
NM_027777
NM_177211

RefSeq (protein)

NP_000457
NP_001269606
NP_001269607

NP_001280735
NP_082053

Location (UCSC)Chr 7: 92.49 – 92.53 MbChr 5: 3.65 – 3.69 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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.