PEX7


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PEX7

A gene on chromosome 6q23.3 that encodes peroxin-7, a cytosolic receptor that targets the peroxisomal matrix enzymes to the peroxisome.
  
Molecular pathology
PEX7 mutations cause peroxisome biogenesis disorders of the so-called complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1) and Refsum disease.
References in periodicals archive ?
(1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
(1997) Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
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.