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PEX1 peroxisomal biogenesis factor 1

Gene ID: 5189, updated on 8-Aug-2021
Gene type: protein coding
Also known as: ZWS; ZWS1; HMLR1; PBD1A; PBD1B

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Heimler syndrome 1
MedGen: C4551980OMIM: 234580GeneReviews: Not available
See labs
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available
Peroxisome biogenesis disorder 1A (Zellweger)See labs
Peroxisome biogenesis disorder 1BSee labs

Genomic context

Location:
7q21.2
Sequence:
Chromosome: 7; NC_000007.14 (92487023..92528520, complement)
Total number of exons:
24

Links

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