SLC17A5
SLC17A5 is a gene that provides instructions for making a protein called sialin. This protein is found in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Sialin transports a molecule called free sialic acid out of lysosomes.
Function[edit | edit source]
The SLC17A5 gene provides instructions for making a protein called sialin. Sialin is found in lysosomes, which are small compartments within cells that break down and recycle different types of molecules. Sialin's primary function is to transport a molecule called free sialic acid out of lysosomes.
Clinical significance[edit | edit source]
Mutations in the SLC17A5 gene cause Salla disease and infantile free sialic acid storage disease (ISSD). These conditions are characterized by the abnormal accumulation of free sialic acid in lysosomes. This accumulation leads to the death of cells and tissues, causing the signs and symptoms of these disorders.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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