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  • Molecular assay reagents intended to identify mutations in the solute carrier family 17 (anion/sugar transporter) member 5 (SLC17A5) gene, located at chromosome 6q14-q15, which encodes for a protein that moves free sialic acid out of the lysosomes to other parts of the cell. This inherited genetic mutation has been identified in patients with free sialic acid storage disorders, including early-onset (neonatal) severe infantile free sialic acid storage disease (ISSD) and a milder form, Salla disease.
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