Article
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.
Human mutation - 1 Jan 2009
Ebberink Merel S, Mooyer Petra A W, Koster Janet, Dekker Conny J M, Eyskens François J M, Dionisi-Vici Carlo, Clayton Peter T, Barth Peter G, Wanders Ronald J A, Waterham Hans R
Abstract excerpt
Proteins destined for the peroxisomal matrix are targeted by virtue of a peroxisomal targeting sequence type 1 (PTS1) or type 2 (PTS2). In humans, targeting of either class of proteins relies on a cytosolic receptor protein encoded by the PEX5 gene. Alternative splicing of PEX5 results in two protein variants, PEX5S and PEX5L. PEX5S is exclusively involved in PTS1 protein import, whereas PEX5L mediates the import...
Topics
- Amino Acid Sequence
- Cell Line
- DNA Mutational Analysis
- Fibroblasts
- Genotype
- Green Fluorescent Proteins
- Humans
- Models, Biological
- Molecular Sequence Data
- Mutation
- Peroxisomal Disorders
- Peroxisome-Targeting Signal 1 Receptor
- Peroxisomes