PEX1

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. [provided by RefSeq, Jul 2008]

Description

peroxisomal biogenesis factor 1

Protein family

Transporters

Chromosome

7:q21.2 (92116334 - 92157845)

Ensembl ID

ENSG00000127980  (ver. 69.37)

Orthologs

Mouse Pex1: ENSMUSG00000005907

Human splice variants
Mouse splice variants