Gene entry
PEX6
peroxisomal biogenesis factor 6
- Chromosome
- 6
- Cytoband
- 6p21.1
- Variants (rsID)
- 13
PEX6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p21.1). Its official name is “peroxisomal biogenesis factor 6”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs1129187Benignsingle nucleotide variantPeroxisome biogenesis disorder 4A (Zellweger)|Zellweger spectrum disorders|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 4B|Heimler syndrome 2
- rs115180949Benignsingle nucleotide variantPeroxisome biogenesis disorder 4A (Zellweger)|Peroxisome biogenesis disorder|Zellweger spectrum disorders
- rs115960224Benignsingle nucleotide variantPeroxisome biogenesis disorder 4A (Zellweger)|Peroxisome biogenesis disorder|Zellweger spectrum disorders
- rs2274515Benignsingle nucleotide variantPeroxisome biogenesis disorder 4A (Zellweger)|Zellweger spectrum disorders|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 4B|Heimler syndrome 2
- rs2274516Benignsingle nucleotide variantPeroxisome biogenesis disorder|Peroxisome biogenesis disorder 4A (Zellweger)|Zellweger spectrum disorders
- rs35830695Benignsingle nucleotide variantPeroxisome biogenesis disorder 4A (Zellweger)|Zellweger spectrum disorders|Heimler syndrome 2|Peroxisome biogenesis disorder 4B|Peroxisome biogenesis disorder
- rs61753220Conflicting interpretationssingle nucleotide variantPeroxisome biogenesis disorder 4A (Zellweger)|Peroxisome biogenesis disorder|Zellweger spectrum disorders
- rs376824422Uncertain significancesingle nucleotide variantPeroxisome 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.