PEX5

PEX5

A gene on chromosome 12p13.31 that encodes a peroxin, an integral membrane protein involved in peroxisome biosynthesis and integrity, which assembles membrane vesicles before translocation of matrix proteins.
 
Molecular pathology
PEX5 mutations are associated with neonatal adrenoleukodystrophy (NALD) type of Zellweger syndrome and may cause infantile Refsum disease.
References in periodicals archive ?
A more practical approach, i.e., a transient expression assay skipping the revertant selection by P12/UV, (39) was also developed for further isolation of PEX cDNAs including nine others, PEX1, PEX3, PEX5, PEX6, PEX12, PEX13, PEX14, PEX19, and PEX26 (21), (34), (40)-(48) (Table 3; Fig.
An alternative strategy, i.e., the homology search by screening the expressed sequence tag database using yeast PEX genes, successfully made it feasible to isolate human orthologue genes responsible for PBDs: (22), (24), (34) PEX1, (55), (56) PEX3, (57) PEX5, (58) PEX6, (59) PEX7, (60)-(62) PEX10, (63),(64) PEX12, (65) PEX13, (66) PEX14, (67) and PEX16.
(2015) A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
(2005) Shuttling mechan ism of peroxisome targeting signal type 1 receptor Pex5: ATP-independent import and ATP dependent export.
(2012) AWP1/ZFAND6 functions in Pex5 export by interacting with Cys-mono-ubiquitinated Pex5 and Pex6 AAA ATPase.
(2012) Identification of ubiquitin-specific protease 9X (USP9X) as a deubiquitinase acting on ubiquitin-peroxin 5 (PEX5) thioester conjugate.
Importantly, this affects the Pex5 importer of peroxisomal matrix proteins [108].
Pex5 is the peroxisomal receptor which upon ubiquitination triggers the process of pexophagy [190,191].
Subramani, "Redox-regulated cargo binding and release by the peroxisomal targeting signal receptor, Pex5," The Journal of Biological Chemistry, vol.
Veldhoven et al., "PEX5, the shuttling import receptor for peroxisomal matrix proteins, is a redox-sensitive protein," Traffic, vol.
Lismont et al., "Export-deficient monoubiquitinated PEX5 triggers peroxisome removal in SV40 large T antigen-transformed mouse embryonic fibroblasts," Autophagy, vol.
In mammalian cells, a dysfunctional peroxisome and general ROS increase activate the ATM kinase, which phoshorylates the Pex5 receptor.