PEX2

PEX2

A gene on chromosome 8q21.1 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
Defects of PEX2 cause peroxisome biogenesis disorder complementation group 5, Zelleger syndrome and a form of Refsum disease.
References in periodicals archive ?
1997) Targeted deletion of the PEX2 peroxisome assembly gene in mice provides a model for Zellweger syndrome, a human neuronal migration disorder.
Complementation groups (CGs) and PEX genes of peroxisome deficiencies Gene CG PBD CHO mutants US/EU Japan PEX1 1 E ZS, NALD *, IRD * Z24, ZP107 PEX2 10 F ZS, IRD * Z65 PEX3 12 G ZS ZPG208 PEX5 2 ZS, NALD ZP105 *, ZP139 PEX6 4(6) C ZS, NALD * ZP92 PEX7 11 R RCDP ZPG207 PEX10 7(5) B ZS, NALD PEX11[beta] 16 ZS PEX12 3 ZS, NALD, IRD ZP109 PEX13 13 H ZS, NALD * ZP128 PEX14 15 K ZS ZP110 PEX16 9 D ZS PEX19 14 J ZS ZP119 PEX26 8 A ZS, NALD *, IRD * ZP124, ZP167 ZP114 Gene Ps-memb.