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Peroxisome biogenesis disorders - Zellweger spectrum
The Zellweger spectrum of peroxisome biogenesis disorders (PBD) are autosomal recessive disorders characterized by neurological defects (including demyelination, retinal dystrophy, hearing loss and seizures), craniofacial abnormalities, liver dysfunction and poor feeding and can be lethal at very young ages. These disorders were categorized clinically into a continuum of three phenotypes prior to their molecular characterization - Zellweger syndrome (the most severe form), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (the least severe). Zellweger syndrome is indicated by the "A" in the OMIM subtype designation; the less severe forms are indicated with a "B" in the OMIM subtype designation.

Zellweger spectrum disorders are caused by mutations in one of 12 PEX genes. Mutations in PEX1 account for almost 70% of cases.

See the Peroxisome disorders page for non-Zellweger spectrum peroxisome disorders

General information links for the Zellweger spectrum of peroxisome biogenesis disorders:
Genetics Home Reference
NIH GeneReviews
NLM/NIH's Genetic and Rare Disease Information Center
Causative genes for Zellweger spectrum disorders
Disorder subtype (links are to the more severe Zellweger or "A" form) Human gene Human full name Fly gene
Peroxisome biogenesis disorder 1A and 1B PEX1 Peroxisome biogenesis factor 1 Pex1
Peroxisome biogenesis disorder 2A and 2B PEX5 Peroxisome biogenesis factor 5 Pex5
Peroxisome biogenesis disorder 3A and 3B PEX12 Peroxisome biogenesis factor 12 Pex12
Peroxisome biogenesis disorder 4A and 4B PEX6 Peroxisome biogenesis factor 6 Pex6
Peroxisome biogenesis disorder 5A and 5B PXMP3 Peroxisome biogenesis factor 2 Pex2
Peroxisome biogenesis disorder 6A and 6B PEX10 Peroxisome biogenesis factor 10 Pex10
Peroxisome biogenesis disorder 7A and 7B PEX26 Peroxisome biogenesis factor 26 ??
Peroxisome biogenesis disorder 8A and 8B PEX16 Peroxisome biogenesis factor 16 Pex16
Peroxisome biogenesis disorder 9B PEX7 Peroxisome biogenesis factor 7 Pex7
Peroxisome biogenesis disorder 10A PEX3 Peroxisome biogenesis factor 3 Pex3
Peroxisome biogenesis disorder 11A and 11B PEX13 Peroxisome biogenesis factor 13 Pex13
Peroxisome biogenesis disorder 12A PEX19 Peroxisome biogenesis factor 19 Pex19
Peroxisome biogenesis disorder 13A PEX14 Peroxisome biogenesis factor 14 Pex14
Peroxisome biogenesis disorder 14B PEX11B Peroxisome biogenesis factor 11B Pex11

Stocks for studying Zellweger spectrum disorders (in alphabetical order)
Relevant gene in stock Fly disease model or related mutation or transgene Stk # Comments
Pex1 P{lacW}Pex1[s4868] 10177 This P{lacW} is inserted into coding sequence in the 2nd exon. It results in reductions of transcript and protein levels and causes neuronal defects, developmental delay and other defects similar to those in human patients (see FBrf0215017).
Pex1 Pex1[1] 4860 An X-ray induced allele of Pex1 that results in reductions in transcript and protein levels (see FBrf0215017).
Pex1 P{TRiP.HMC03252}attP2 51497 Expresses dsRNA for RNAi of Pex1 (FBgn0013563) under UAS control.
Pex1 P{TRiP.HM05190}attP2 28979 Expresses dsRNA for RNAi of Pex1 (FBgn0013563) under UAS control.
Pex2 P{EPg}Pex2[HP35039] 21973 This P{EPg} is inserted in coding sequence in the 5th exon. It is a partial loss of function allele with sterility defects.
Pex2 PBac{WH}Pex2[f01899] 18485 This PBac{WH} is inserted in coding sequence in the 5th exon. It is a partial loss-of-function allele with sterility defects but beware the chromosome apparently carries a secondary lethal (see FBrf0209624).
Pex3 P{TRiP.HMC03096}attP2 50694 Expresses dsRNA for RNAi of Pex3 (FBgn0036484) under UAS control.
Pex3 P{EPgy2}Pex3[EY19206] 22152 This P{EPgy2} inserted in the 1st exon (noncoding) is uncharacterized but is orietned such that it could express Pex3 in the presence of GAL4.
Pex5 Mi{MIC}Pex5[MI06050] 44685 This Mi{MIC} insertion in coding sequence (1st or 2nd exon depending on the transcript) is uncharacterized but is an unverified lethal suggesting it may disrupt function.
Pex5 P{TRiP.HMS02546}attP40 42854 Expresses dsRNA for RNAi of Pex5 (FBgn0023516) under UAS control.
Pex5 P{TRiP.HMJ21920}attP40 58064 Expresses dsRNA for RNAi of Pex5 (FBgn0023516) under UAS control.
Pex5 P{TRiP.HMC04009}attP40 55322 Expresses dsRNA for RNAi of Pex5 (FBgn0023516) under UAS control.
Pex10 Mi{MIC}Pex10[MI04076] 37105 This Mi{MIC} insertion in the 2nd or 3rd intron (depending on the transcript) is uncharacterized but is an unverified lethal suggesting it may disrupt function.
Pex10 P{TRiP.HMC03398}attP2 51826 Expresses dsRNA for RNAi of Pex10 (FBgn0035233) under UAS control.
Pex10 P{Mae-UAS.6.11}Pex10[DP01222] 21837 This P{Mae-UAS.6.11} insertion in the first intron (or 5' untranslated depending on the transcript) is uncharacterized but is oriented such that it could express Pex10 in the presence of GAL4.
Pex10 P{EP}Pex10[G5094] 27176 This P{EP} insertion 5' of Pex10 coding sequence in the 1st or 2nd exon (depending on the transcript) is uncharacterized but is oriented such that it could express Pex10 in the presence of GAL4.
Pex10 Pex10[EY23523] 22641 This P{EPgy2} insertion 5' of Pex10 coding sequences (in noncoding or untranslated depending on the transcript) as well as the 1st exon (non-coding) of CG12099 is uncharacterized but is oriented such that it could express Pex10 in the presence of GAL4.
Pex11 P{TRiP.HMS02576}attP40 42883 Expresses dsRNA for RNAi of Pex11 (FBgn0034058) under UAS control.
Pex12 P{TRiP.HMC03536}attP2 53308 Expresses dsRNA for RNAi of Pex12 (FBgn0031282) under UAS control.
Pex13 P{SUPor-P}Pex13[KG04339] 13804 This P{SUPor-P} insertion in 5' noncoding results in reduced transcript levels and sterility.
Pex13 P{TRiP.HMC03099}attP2 50697 Expresses dsRNA for RNAi of Pex13 (FBgn0033812) under UAS control.
Pex16 P{EPgy2}Pex16[EY05323] 16651 This P{EPgy2} insertion in the first exon (in coding sequences) is a partial loss-of-function allels that causes cytokinensis defects.
Pex16 P{TRiP.HMC04810}attP2 57495 Expresses dsRNA for RNAi of Pex16 (FBgn0037019) under UAS control.
Pex19 P{TRiP.HMC03104}attP2 50702 Expresses dsRNA for RNAi of Pex19 (FBgn0032407) under UAS control.
Pex19 P{Mae-UAS.6.11}Pex19[DP00474] 22055 This P{Mae-UAS.6.11} insertion 5' of coding sequences (in the 1st or 2nd exon depending on the transcript) is uncharacterized but is oriented such that it could express Pex19 in the presence of GAL4.