Gene entry
PEX5
peroxisomal biogenesis factor 5
- Chromosome
- 12
- Cytoband
- 12p13.31
- Variants (rsID)
- 20
PEX5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12p13.31). Its official name is “peroxisomal biogenesis factor 5”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs115338343Benignsingle nucleotide variantPeroxisome biogenesis disorder 2A (Zellweger)|Peroxisome biogenesis disorder 2B
- rs116873137Benignsingle nucleotide variantPeroxisome biogenesis disorder 2A (Zellweger)|Peroxisome biogenesis disorder 2B
- rs61573078Benignsingle nucleotide variant
- rs73051959Benignsingle nucleotide variant
- rs149102738Conflicting interpretationssingle nucleotide variantPeroxisome biogenesis disorder 2A (Zellweger)|Peroxisome biogenesis disorder 2B
- rs61752137Pathogenicsingle nucleotide variantPeroxisome biogenesis disorder 2A (Zellweger)|Peroxisome biogenesis disorder 2B
- rs61752138Pathogenicsingle nucleotide variantPeroxisome biogenesis disorder 2B|Peroxisome biogenesis disorder 2A (Zellweger)
- rs146567534Uncertain significancesingle nucleotide variantPeroxisome biogenesis disorder 2A (Zellweger)|Peroxisome biogenesis disorder 2B|Rhizomelic chondrodysplasia punctata type 5|Peroxisome biogenesis disorder 2A (Zellweger)|Peroxisome biogenesis disorder 2B
- rs200720523Uncertain significancesingle nucleotide variantPeroxisome biogenesis disorder 2A (Zellweger)|Peroxisome biogenesis disorder 2B
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.