Lysosomal sialic acid transporter sialin (SLC17A5): sialic acid storage disease (SASD)
Lysosomes are intracellular organelles acidified by a vacuolar proton pump. They contain a wide variety of acid hydrolases for degradation of intra- and extracellular macromolecules and are surrounded by a single lipid bilayer membrane. Initially the lysosomal membrane was considered to be only a mechanical border separating the acid lysosomal environment from the neutral environment of the surrounding cytoplasm. Therefore lysosomes were considered the “terminal degradative compartment” of the cell and their function was strictly linked to cellular catabolism. However, two inborn errors of metabolism — cystinosis and sialicacid storage disorders — have contributed to a more thorough understanding of lysosomal membrane transport function.As we know now, the lysosomal membrane contains special transport proteins for both export and import (Mancini et al. 2000).
KeywordsCarboxylate Arginine Cardiomyopathy Oligosaccharide Hydrolase
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