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 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.
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.
2015) Export deficient monoubiquitinated PEX5 triggers peroxisome removal in SV40 large T antigen-transformed mouse embryonic fibroblasts.