Article
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.
Nature genetics - 1 Feb 1995
Dodt G, Braverman N, Wong C, Moser A, Moser H W, Watkins P, Valle D, Gould S J
Abstract excerpt
The peroxisome biogenesis disorders (PBDs) are lethal recessive diseases caused by defects in peroxisome assembly. We have isolated PXR1, a human homologue of the yeast P. pastoris PAS8 (peroxisome assembly) gene. PXR1, like PAS8, encodes a receptor for proteins with the type-1 peroxisomal target...
Topics
- Amino Acid Sequence
- Carrier Proteins
- Cytosol
- Genes, Fungal
- Genetic Complementation Test
- Humans
- Membrane Proteins
- Metabolic Diseases
- Microbodies
- Molecular Sequence Data
- Mutation
- Peroxisome-Targeting Signal 1 Receptor
- Receptors, Cell Surface
- Receptors, Cytoplasmic and Nuclear