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PEX2 peroxisomal biogenesis factor 2

Gene ID: 5828, updated on 8-Jul-2021
Gene type: protein coding
Also known as: PAF1; PMP3; ZWS3; PBD5A; PBD5B; PMP35; PXMP3; RNF72

Summary

This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
GeneReviews: Not available
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available
Peroxisome biogenesis disorder 5a (zellweger)
MedGen: C3553940OMIM: 614866GeneReviews: Not available
See labs
Peroxisome biogenesis disorder 5B
MedGen: C3542026OMIM: 614867GeneReviews: Not available
See labs
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
GeneReviews: Not available

Genomic context

Location:
8q21.13
Sequence:
Chromosome: 8; NC_000008.11 (76980258..77001044, complement)
Total number of exons:
5

Links

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