Gene Symbol: Pex7
Description: peroxisomal biogenesis factor 7
Alias: peroxisomal biogenesis factor 7, peroxisome biogenesis factor 7
Purdue P, Zhang J, Skoneczny M, Lazarow P. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet. 1997;15:381-4 pubmed
..We have previously isolated a Saccharomyces cerevisiae peroxisomal biogenesis mutant, pex7 (formerly peb1/pas7), which demonstrates a striking similarity to the cellular phenotype of RCDP fibroblasts in ..
Will G, Soukupova M, Hong X, Erdmann K, Kiel J, Dodt G, et al
. Identification and characterization of the human orthologue of yeast Pex14p. Mol Cell Biol. 1999;19:2265-77 pubmed
..The role of HsPex14p in mammalian peroxisome biogenesis makes HsPEX14 a candidate PBD gene for being responsible for an unrecognized complementation group of human peroxisome biogenesis disorders. ..
Ghys K, Fransen M, Mannaerts G, Van Veldhoven P. Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins. Biochem J. 2002;365:41-50 pubmed
..The GFP fusion proteins, tagged at either the N- or C-terminus, were able to restore PTS2 import in rhizomelic chondrodysplasia punctata fibroblasts, and Pex7p-GFP was located both in the lumen of peroxisomes and in the cytosol...
Braverman N, Steel G, Obie C, Moser A, Moser H, Gould S, et al
. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet. 1997;15:369-76 pubmed
..b>PEX7, a candidate gene for RCDP identified in yeast, encodes the receptor for peroxisomal matrix proteins with the type-..
Motley A, Hettema E, Hogenhout E, Brites P, Ten Asbroek A, Wijburg F, et al
. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nat Genet. 1997;15:377-80 pubmed
..Deficiencies in peroxisomal targeting are also found in Saccharomyces cerevisiae pex5 and pex7 mutants, which show differential protein import deficiencies corresponding to two peroxisomal targeting sequences (..
van den Brink D, Brites P, Haasjes J, Wierzbicki A, Mitchell J, Lambert Hamill M, et al
. Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet. 2003;72:471-7 pubmed
..This region includes the PEX7 gene, which codes for the peroxin 7 receptor protein required for peroxisomal import of proteins containing a ..
Brites P, Motley A, Gressens P, Mooyer P, Ploegaert I, Everts V, et al
. Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. Hum Mol Genet. 2003;12:2255-67 pubmed
..The disorder is caused by mutations in the PEX7 gene, which encodes the receptor for a class of peroxisomal matrix enzymes...