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Gene entry

PEX2

peroxisomal biogenesis factor 2

Chromosome
8
Cytoband
8q21.13
Variants (rsID)
10

PEX2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q21.13). Its official name is “peroxisomal biogenesis factor 2”. The reference table lists 10 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs142645936Conflicting interpretationssingle nucleotide variantPeroxisome biogenesis disorder 1A (Zellweger)|Peroxisome biogenesis disorder 5A (Zellweger)|Peroxisome biogenesis disorder 5B|Zellweger spectrum disorders
  • rs35689779Conflicting interpretationssingle nucleotide variantPeroxisome biogenesis disorder 5A (Zellweger)|Peroxisome biogenesis disorder 5B
  • rs61752123Pathogenicsingle nucleotide variantPeroxisome biogenesis disorder 5A (Zellweger)|Peroxisome biogenesis disorder 5B|Peroxisome biogenesis disorder|Zellweger spectrum disorders
  • rs764771123PathogenicDeletionPeroxisome biogenesis disorder 5A (Zellweger)|Peroxisome biogenesis disorder 5B|Peroxisome biogenesis disorder|Zellweger spectrum disorders

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.