Article
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.
Nature genetics - 1 Dec 1997
Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau W H, Dodt G
Abstract excerpt
Human peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal-recessive disease caused by mutations in PEX genes that encode peroxins, proteins required for peroxisome biogenesis. These lethal diseases include Zellweger syndrome (ZS), neonatal adrenoleukodystroph...
Topics
- Adenosine Triphosphatases
- Amino Acid Sequence
- Animals
- Cell Line
- Fibroblasts
- Genetic Complementation Test
- Humans
- Molecular Sequence Data
- Mutation
- PHEX Phosphate Regulating Neutral Endopeptidase
- Peroxisomal Disorders
- Pichia
- Proteins
- Rats
- Saccharomyces cerevisiae
- Sequence Alignment
- Sequence Homology, Amino Acid
- Swine