Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SLC17A5

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SLC17A5

Definition : 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.

Entry Terms : "N-Acetylneuraminic Acid (NANA) Storage Disease Gene Mutation Reagents" , "Free Neuraminic Acid Storage Disease Gene Mutation Reagents" , "Intermediate Severe Salla Disease Gene Mutation Reagents" , "Salla Disease Gene Mutation Reagents" , "Infantile Free Sialic Acid Storage Disease (ISSD) Gene Mutation Reagents" , "Free Sialic Acid Storage Disorder Gene Mutation Reagents" , "SLC17A5 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SLC17A5"

UMDC code : 24967

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ACROBiosystems Inc

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