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. 2018 Jan 23;41(1):55–64. doi: 10.14348/molcells.2018.2245

Table 1.

Peroxisomal proteins and their relevance with pathological aspects

Gene Function Diseases References
PEX1 Peroxisome fusion and/or peroxisomal matrix protein import IRD, NALD, ZSD, HS Reuber et al., 1997; Smith et al., 2016; Tamura et al., 2001; Yik et al., 2009
PEX2 Peroxisomal matrix protein import ZS, Mild ZSD, IRD Shimozawa et al., 1999a
PEX3 The assembly and maintenance of the peroxisomal membrane ZS, Mild IRD Muntau et al., 2000
PEX5 Peroxisomal matrix proteins carrying PTS1 NALD, ZSD, RCDP5 Barøy et al., 2015; Shimozawa et al., 1999c
PEX6 Peroxisome fusion and/or peroxisomal matrix protein import NALD, ZSD, HS Smith et al., 2016; Yik et al., 2009; Zhang et al., 1999
PEX7 Peroxisomal matrix proteins carrying PTS2 RCDP1, Mild RD Braverman et al., 1997; van den Brink et al., 2003
PEX10 Peroxisomal matrix protein import NALD, ZSD Warren et al., 1998; Yik et al., 2009
PEX11β Peroxisome division Mild ZSD Ebberink et al., 2012
PEX12 Peroxisomal matrix protein import IRD, NALD, ZSD Chang et al., 1997; Yik et al., 2009
PEX13 Peroxisomal matrix protein import NALD, ZSD Al-Dirbashi et al., 2009; Liu et al., 1999; Shimozawa et al., 1999b
PEX14 The initial docking site for PTS1 and PTS2 receptors of matrix proteins/an essential component of peroxisomal import machinery ZS Huybrechts et al., 2008
PEX16 Peroxisome division or peroxisomal membrane biogenesis ZSD South and Gould, 1999
PEX19 The import and/or membrane assembly of numerous peroxisomal membrane proteins. ZS Matsuzono et al., 1999
PEX26 Receptor export, membrane receptors for Pex1 and Pex6 ZSD. NALD, IRD Matsumoto et al., 2003; Yik et al., 2009
ACBD5 (Atg37) Acyl-CoA binding protein which acts as the peroxisome receptor for pexophagy Retinal dystrophy, WMD Ferdinandusse et al., 2017

ATM, Ataxia-telangiectasia mutated; HS, Heimler syndrome; IRD, Infantile refsum disease; NALD, Neonatal adrenoleukodystrophy; RCDP, Rhizomelic chondrodysplasia punctate; WMD, White matter dementia; ZS, Zellweger syndrome; ZSD, Zellweger spectrum disorders