Identification of PEX10 (ital), the gene defective in complementation group 7 of the peroxisome-biogenesis disorders

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.

Genetic aspects, Life, Origin, Origin of life, Peroxisomes

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GDF6, a novel locus for a spectrum of ocular developmental anomalies

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.

Science & research, Research, Phenotype, Phenotypes, Genetic disorders, Eye diseases

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