Article
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
Nature genetics - 1 Apr 1997
Purdue P E, Zhang J W, Skoneczny M, Lazarow P B
Abstract excerpt
The rhizomelic form of chondrodysplasia punctata (RCDP) is an autosomal recessive disease of peroxisome biogenesis characterized by deficiencies in several peroxisomal proteins, including the peroxisomal enzymes of plasmalogen biosynthesis and peroxisomal 3-ketoacyl thiolase. In cultured fibroblasts from patients with this disorder, both the peroxisomal targeting and proteolytic removal of the amino-terminal type...
Topics
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Chondrodysplasia Punctata, Rhizomelic
- DNA, Complementary
- Fibroblasts
- Gene Expression
- Humans
- Molecular Sequence Data
- Mutation
- Peroxisomal Targeting Signal 2 Receptor
- Receptors, Cytoplasmic and Nuclear
- Recombinant Fusion Proteins
- Sequence Analysis, DNA
- Sequence Homology, Amino Acid