Abstract

Publisher Summary The peroxisome is a ubiquitous intracellular organelle present in eukaryotes. It is classically defined as a subcellular compartment containing catalase and one H2O2-producing oxidase. Peroxisomes function in the catabolism of a wide variety of substrates, such as fatty acids, D-amino acids, L-α-hydroxy acids, uric acid, and polyamines. Several human genetic disorders with evidence of the absence of peroxisomes are linked to various biochemical dysfunctions. Peroxisomal diseases include 12 different disorders. Hence, the peroxisome plays a crucial metabolic role. This chapter discusses two topics in the study of peroxisome biogenesis: peroxisomal topogenic signals and pathogenic genes of human peroxisome-deficient disorders.

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