rs540399289

This variant is located in the SLC17A5 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Salla disease; Sialic acid storage disease, severe infantile type

About SLC17A5

This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]

View all SLC17A5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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