Article Abstract:
The human orthologue of yeast PEX10 (ital) has been identified. Its expression has been seen to rescue peroxisomal matrix-protein import in fibroblasts of peroxisome-biogenesis disorder (PBD) patients from complementation group 7 (CG7). It appears that loss of PEX10 (ital) has its major effect on peroxisomal matrix-protein import. PEX10 (ital)-deficient PBD100 cells import peroxisomal membrane proteins and have many peroxisomes. However they do not import peroxisomal matrix proteins.
User Contributions:
Comment about this article or add new information about this topic:
Article Abstract:
Peroxisome-biogenesis disorders (PBDs), a set of lethal genetic diseases that are often lethal and that are characterized by defective peroxisomal matrix protein import and mental retardation, and phenotype-genotype relationships in complementation group 3 are discussed. Translation initiation at internal AUG codons seem to modulate disease phenotypes and when unexpectedly mild phenotypes come from severe mutations early in the coding region they should be considered.
User Contributions:
Comment about this article or add new information about this topic:
Article Abstract:
The GDF6 plays an essential role in retinal development and it is evident that altered gene dosage results in a diverse spectrum of ocular malformations. The human and zebrafish phenotypes confirm interspecies conservation of the requirement for precise GDF6/gdf6 dosage in normal development.
User Contributions:
Comment about this article or add new information about this topic: